BRCA2 VUS Classification
| mES Cell based functional assay | HR Assay (https://pubmed.ncbi.nlm.nih.gov/29394989/) | mES cell based assay (https://pubmed.ncbi.nlm.nih.gov/29988080/) | MANO B (https://pubmed.ncbi.nlm.nih.gov/32444794/) | Base editing (https://pubmed.ncbi.nlm.nih.gov/33691754/) | Multifactorial model (https://pubmed.ncbi.nlm.nih.gov/31131967/) | Prime Editing (https://www.biorxiv.org/content/10.1101/2021.05.11.443710v1.full.pdf) | Reference | ||||||||||||||||||||||||||||||
| HGVS Protein | Variant | HGVS nucleotide | Exon | Splice distance | Align GvGD | Prior probabilities of Pathogenicity | Clinvar | BRCA exchange | mBRCA2 complementation | Sensitivity to drugs | RAD51 foci defect | HR Defect | Genomic instability | PIF[HAT] | PIF[DS] | PIF[HAT+ DS] | Effect on splicing | Classification | pr(Del) | Classification | Complementation | % of HDR relative to WT | % of Cisplatin sensitivity relative to WT | Olaparib | Niraparib | Rucaparib | CBDCA | Score | Probability | Classification | Posterior Probability | Classification | Classification | Functional Score | |||
| 1 | IVS2-7T>A | c.68-7T>A | -7 | 0.34 | Benign | Benign | Yes | NO | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | |||||
| 2 | p.Gly25Arg | G25R | c.73G>C | 3 | 6 | Class C65 | 0.81 | Uncertain | Not Yet Reviewed | Yes | Moderately Sensitive | ND | 50 % reduction | Moderate increase | 0 | 0.0766 | 0 | No effect | F | NA | NA | Yes | 65 | 66 | fClass 3 | fClass 3 | fClass 3 | fClass 3 | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 3 | p.Trp31Arg | W31R | c.91T>C | 3 | 24 | Class C65 | 0.81 | Uncertain | Not Yet Reviewed | No | ND | ND | ND | ND | 1 | NA | 1 | No effect | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 4 | p.Trp31Cys | W31C | c.93G>T | 3 | 26 | Class C65 | 0.81 | Uncertain/Likely Pathogenic | Not Yet Reviewed | No | ND | ND | ND | ND | 1 | NA | 1 | Partial skipping of exon 3 | NF | NA | NA | Poor | 24 | 39 | fClass 4 | fClass 4 | fClass 4 | fClass 4 | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 5 | p.Tyr42Cys | Y42C | c.125A>G | 3 | 58 | Class C0 | 0.02 | Benign | Benign | yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | Yes | 72 | 59 | fClass 2 | fClass 1 | fClass 2 | fClass 2 | 1.09337862 | 0.000420727 | Other | 0 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 6 | p.Cys132Ter | C132X | c.396T>A | 4 | -30 | 0.99 | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | ||||
| 7 | p.Asn136fs | N136fs | c.407delA | 4 | -19 | No data | Yes (reduced no) | Yes | ND | ND | ND | NA | NA | NA | Yes, generate functional protein with internal deletion | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | ||||
| 8 | p.Asp156fs | D156fs | c.462_463delAA | 5 | -13 | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | |||||
| 9 | p.Lys157fs | K157fs | c.470_474delAGTCA | 5 | -2 | Pathogenic | Yes (reduced no) | Yes | ND | ND | ND | NA | NA | NA | Yes, generate functional protein with internal deletion | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | ||||
| 10 | p.Leu164fs | L164fs | c.489_490insG | 6 | 14 | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | |||||
| 11 | p.Pro168Thr | P168T | c.502C>A | 6 | -15 | Class C35 | 0.02 | Benign | Benign | 0.0026 | 0.2426 | 0 | F | NA | NA | Yes | 115 | 108 | fClass 2 | fClass 1 | fClass 2 | fClass 1 | NA | NA | NA | 0.00003 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 12 | p.Lys169Arg | K169R | c.506A>G | 6 | -11 | Class C25 | 0.3 | Benign/Likely Benign | Not Yet Reviewed | 0.0148 | 0.4618 | 0.0038 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.038818567 | 2 - Likely not pathogenic or of little clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 13 | p.Gly173fs | G173fs | c.518delG | 7 | 2 | No data | Yes (reduced no) | Yes | ND | ND | ND | NA | NA | NA | Yes, generate functional protein with internal deletion | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | ||||
| 14 | p.Iso180fs | I180fs | c.538_539delAT | 7 | 22 | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | |||||
| 15 | p.Ser181fs | S181fs | c.539_540insAT | 7 | 23 | No data | No | ND | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | |||||
| 16 | p.Ser181fs | S181fs | c.541delT | 7 | 25 | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | |||||
| 17 | p.Met192fs | M192fs | c.574_575delAT | 7 | -57 | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | |||||
| 18 | p.Trp194Ter | W194X | c.581G>A | 7 | -51 | 0.99 | Pathogenic | Pathogenic | Yes (reduced no) | No | ND | ND | ND | 1 | NA | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.167170915 | 0.015883291 | Other | >0.99 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/21719596/ | |||
| 19 | p.Ser205fs | S205fs | c.610delC | 7 | -22 | Pathogenic | Yes (reduced no) | Mild/No | ND | ND | ND | NA | NA | NA | Yes, generate functional protein with internal deletion | I | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | ||||
| 20 | IVS7+2T>G | c.631+2T>G | 2 | 0.97 | Pathogenic | Pathogenic | No | ND | ND | ND | ND | 1 | NA | 1 | Yes, skips exon 7 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/21719596/ | ||||
| 21 | IVS7-2A>G | c.632-2A>G | -2 | 0.97 | Pathogenic | Yes (reduced no) | Yes | ND | ND | ND | NA | NA | NA | Yes, generate functional protein with internal deletion | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7444012/ | |||||
| 22 | IVS7-10insT | c.632-10dupT | -10 | 0.34 | No data | Yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||||||
| 23 | p.Val220fs | V220Ifs | c.658_659delGT (886del GT) | 8 | No Data | Pathogenic. | 1 | 1 | 1 | Yes, generate functional protein with internal deletion | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||||
| 24 | p.Ala262Thr | A262T | c.784G>A | 9 | -10 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | Yes | Moderate to some drugs | No on IR induced | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/32393398/ | ||
| 25 | p.Phe266Leu | F266L | c.796T>C | 10 | 3 | Class C0 | 0.04 | Likely Benign | Not Yet Reviewed | Yes | No | ND | ND | ND | 0.0864 | 0.2936 | 0.0438 | F | NA | NA | NA | NA | NA | fClass 1 | fClass 1 | fClass 1 | fClass 1 | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||
| 26 | p.Asn277Lys | N277K | c.831 T>G | 10 | 38 | Class C0 | 0.02 | Uncertain/Likely Benign/Benign | Not Yet Reviewed | Yes | No | ND | ND | ND | 0.0018 | 0.0854 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.001303579 | 2 - Likely not pathogenic or of little clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||
| 27 | p.Lys452Val | L452V | c.1354C>G | 10 | -556 | Class C0 | 0.02 | No Data | No data | Yes | No | ND | ND | ND | 0.0024 | 0.0594 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||
| 28 | p.Glu534Lys | E534K | c.1600G>A | 10 | -310 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 29 | p.Thr598Ala | T598A | c.1792A>G | 10 | -118 | Class C0 | 0.02 | Benign/Likely Benign | Benign | Yes | No | ND | ND | ND | 0.0008 | 0.0342 | 0 | F | NA | NA | NA | NA | NA | fClass 1 | fClass 1 | fClass 2 | fClass 1 | NA | NA | NA | 4.51E-05 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||
| 30 | p.Thr598Iso | T598I | c.1793C>T | 10 | -117 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | 0.0036 | 0.1472 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||
| 31 | p.Gly637Gly | G637G | c.1911T>G | 11 | 2 | 0.04 | Likely Benign | Likely benign | Yes | No | ND | ND | ND | 0.1164 | 0.0312 | 0.0002 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||
| 32 | p.Pro655Arg | P655R | c.1964C>G | 11 | 55 | Class C0 | 0.02 | Benign | Benign | Yes | No | ND | No | ND | 0 | 0.0174 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00007 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | ||
| 33 | p.Gln742Ter | Q742X | c.2224C>T | 11 | 315 | 0.99 | Pathogenic | Pathogenic | No | ND | ND | ND | ND | 1 | NA | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||
| 34 | p.Iso785Val | I785V | c.2353A>G | 11 | 444 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/32393398/ | ||
| 35 | p.Asn830Asp | N830D | c.2488A>G | 11 | 579 | Class C0 | 0.02 | Uncertain/Likely Benign | Not Yet Reviewed | yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/32393398/ | ||
| 36 | p.Ser869Leu | S869L | c.2606C>T | 11 | 697 | Class C0 | 0.02 | Likely Benign | Not Yet Reviewed | 0.0078 | 0.033 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.197912858 | 3 - Uncertain | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 37 | p.Asn986Ser | N986S | c.2957A>G | 11 | 1048 | Class C0 | 0.02 | Uncertain/Likely Benign | Not Yet Reviewed | 0.0074 | 0.046 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 38 | p.Asn986Iso | N986I | c.2957A>T | 11 | 1048 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | 0.0024 | 0.1616 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 39 | p.Asn986Asp | N991D | c.2971A>G | 11 | 1062 | Class C0 | 0.02 | Benign | Benign | yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 40 | p.Met1300_Thr1301delinsIle | M1300I+1301Tdel | c.3900_3902del | 11 | No data | No data | 0.0076 | 0.0504 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||||||
| 41 | p.Thr1302del | T1302del | c.3904_3906del | 11 | No data | Not Yet Reviewed | 0.0076 | 0.6654 | 0.0132 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||||||
| 42 | p.Ser1261Cys | S1261C | c.3782C>G | 11 | 1873 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/32393398/ | ||
| 43 | p.Glu1308Ter | E1308X | c.3922G>T | 11 | 2013 | 0.99 | Pathogenic | Pathogenic | 1 | NA | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||||
| 44 | p.Asp1420Tyr | D1420Y | c.4258G>T | 11 | 2349 | Class C0 | 0.02 | Benign | Benign | yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | fClass 1 | fClass 1 | fClass 2 | fClass 1 | NA | NA | NA | 0.0001 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 45 | p.Ser1479Thr | S1479T | c.4436G>C | 11 | -2406 | Class C0 | 0.02 | Uncertain/Likely Benign | Not Yet Reviewed | 0.001 | 0.0654 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 46 | p.Phe1524Val | F1524V | c.4570T>G | 11 | -2272 | Class C45 | 0.02 | Benign | Benign | 0 | 0.0436 | 0 | F | NA | NA | NA | NA | NA | fClass 2 | fClass 1 | fClass 3 | fClass 3 | NA | NA | NA | 0.00002 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 47 | p.Gly1529Arg | G1529R | c.4585G>A | 11 | -2257 | Class C65 | 0.02 | Benign | Benign | 0.0176 | 0.1146 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 48 | p.Thr1624Ala | T1624A | c.4870A>G | 11 | -1972 | Class C0 | 0.02 | No Data | No data | 0.011 | 0.9554 | 0.0518 | I | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 49 | p.Val1643Ala | V1643A | c.4928T>C | 11 | -1914 | Class C0 | 0.02 | Uncertain/Likely Benign | Not Yet Reviewed | 0.0032 | 0.071 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.1391 | 3 - Uncertain | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 50 | p.Asp1781Asn | D1781N | c.5341G>A | 11 | -1501 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | 0.1906 | 0.0478 | 0.0038 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 51 | p.Asp1781Gly | D1781G | c.5342A>G | 11 | -1500 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | 0.009 | 0.1744 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 52 | p.Asn1880Lys | N1880K | c.5640T>G | 11 | -1202 | Class C0 | 0.02 | Benign/Likely Benign | Benign | 0.0086 | 0.0892 | 0.0052 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.002309002 | 2 - Likely not pathogenic or of little clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 53 | p.Ser1882Ter | S1882X | c.5645C>G | 11 | -1197 | 0.99 | Pathogenic | Pathogenic | 1 | NA | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||||
| 54 | p.Lys1883Asn | K1883N | c.5649A>C | 11 | -1193 | Class C0 | 0.02 | Uncertain/Likely Benign | Not Yet Reviewed | 0.0074 | 0.0458 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.006632596 | 2 - Likely not pathogenic or of little clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 55 | p.Iso1884Thr | I1884T | c.5651T>C | 11 | -1191 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | 0.0386 | 0.768 | 0.154 | I | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.007684984 | 2 - Likely not pathogenic or of little clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 56 | p.Ser1926fs | S1926Rfs | c.5778delT (6005delT) | 11 | No Data | Pathogenic | 1 | NA | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||||||
| 57 | p.His1966Tyr | H1966Y | c.5896C>T | 11 | -946 | Class C0 | 0.02 | Likely Benign/Uncertain | Not Yet Reviewed | 0.0024 | 0.0428 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.001668368 | Likely Benign | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 58 | p.Ser1982fs | S1982Rfs*22 (6174delT) | c.5946delT | 11 | -896 | Pathogenic | Pathogenic. | No | ND | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||||
| 59 | p.Lys2077Asn | K2077N | c.6231G>T | 11 | -611 | Class C35 | 0.02 | Uncertain/Likely Benign | No data | yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/32393398/ | ||
| 60 | p.Leu2106Pro | L2106P | c.6317T>C | 11 | -525 | Class C0 | 0.02 | Benign/Likely Benign | Not Yet Reviewed | 0.0084 | 0.161 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.00904553 | 2 - Likely not pathogenic or of little clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 61 | p.Arg2108Cys | R2108C | c.6322C>T | 11 | -520 | Class C0 | 0.02 | Conflicting Interpretations | Benign | yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.000247631 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 62 | p.Arg2108His | R2108H | c.6323G>A | 11 | -519 | Class C0 | 0.02 | Benign/Likely Benign | Benign | yes | No | ND | No | ND | 0 | 0.0194 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | ||
| 63 | p.Ser2152Tyr | S2152Y | c.6455C>A | 11 | -387 | Class C0 | 0.02 | Benign/Likely Benign | Benign | 0.0636 | 0.2396 | 0.0272 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 3.15E-05 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 64 | p.Gly2281Val | G2281V | c.6842G>T | 12 | 1 | Class C0 | 0.34 | Uncertain | Not Yet Reviewed | 0.015 | 0.0422 | 0.0008 | Yes, generate all functional protein with internal deletion (ex12) | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 65 | p.Iso2285Val | I2285V | c.6853A>G | 12 | 12 | Class C0 | 0.02 | Benign | Benign | Yes | No | No | No | No | 0 | 0.0222 | 2.00E-04 | Yes, generate all functional protein with internal deletion (ex12) | F | NA | NA | Yes | 60 | 122 | NA | NA | NA | NA | NA | NA | NA | 0 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/19795481/ | |
| 66 | p.Thr2301Asn | T2310N | c.6929C>A | 12 | -9 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 67 | p.Asp2312Val | D2312V | c.6935A>T | 12 | -3 | Class C15 | 0.5 | Benign/Likely Benign | Benign | 0.001 | 0.283 | 0 | Yes, generate functional protein with internal deletion (ex12) and full length | F | NA | NA | Yes | 78 | 46 | NA | NA | NA | NA | NA | NA | NA | 2.66E-05 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 68 | p.Asp2312Glu | D2312E | c.6936T>A | 12 | -2 | Class C0 | 0.04 | Uncertain | Not Yet Reviewed | 0.0022 | 0.0374 | 0.0002 | No effect | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 69 | p.Arg2336His | R2336H | c.7007G>A | 13 | -1 | Class C0 | 0.34 | Pathogenic | Pathogenic | Yes (Reduced) | Yes | Yes | Yes | Yes | 1 | 0.5106 | 1 | Yes, affect splicing of exons 12 and 13 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | -1.017071929 | 0.903870118 | LOF | >0.99 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/21719596/ | |
| 70 | p.Arg2336Leu | R2336L | c.7007G>T | 13 | -1 | Class C0 | 0.34 | Pathogenic/Likely Pathogenic | Not Yet Reviewed | 0.196 | 0.7516 | 0.3642 | Yes, affect splicing of exons 12 and 13 | I | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 71 | p.Arg2336Pro | R2336P | c.7007G>C | 13 | -1 | Class C0 | 0.34 | Pathogenic | Not Yet Reviewed | 0.9684 | 0.977 | 0.999 | Yes, affect splicing of exons 12 and 13 | NF | NA | NA | NA | NA | NA | fClass 1 | fClass 1 | fClass 1 | fClass 1 | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 72 | p.Phe2406Leu | F2406L | c.7218T>G | 14 | 211 | Class C0 | 0.02 | Uncertain | Not Yet Reviewed | Yes | No | ND | No | ND | 0 | 0.02 | 0 | No effect | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 73 | p.Lys2411Thr | K2411T | c.7232A>C | 14 | -204 | Class C0 | 0.02 | Benign/Likely Benign | Benign | 0.0058 | 0.1364 | 0.0002 | F | NA | NA | NA | NA | NA | fClass 1 | fClass 1 | fClass 2 | fClass 2 | NA | NA | NA | 0.000259942 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 74 | p.Ser2483Gly | S2483G | c.7447A>G | 15 | 12 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | 0.044 | 0.11 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.229056678 | 0.045727845 | Other | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 75 | p.Arg2488fs | R2488Rfs (7691insAT) | c.7458insAT | 15 | No Data | No data | 1 | NA | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||||||
| 76 | p.Ser2483Asn | S2483N | c.7448G>A | 15 | 13 | Class C0 | 0.03 | Uncertain/Likely Benign | Not Yet Reviewed | 0.0038 | 0.1072 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.011027229 | 2 - Likely not pathogenic or of little clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 77 | p.Arg2488Lys | R2488K | c.7463G>A | 15 | 28 | Class C0 | 0.03 | Uncertain/Likely Benign | Not Yet Reviewed | 0.0096 | 0.22 | 0.0048 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.060436389 | 3 - Uncertain | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 78 | p.Arg2488Ser | R2488S | c.7464A>C | 15 | 29 | Class C35 | 0.66 | Uncertain | Not Yet Reviewed | 0.0022 | 0.059 | 0 | F | 0.021 | likely benign | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 79 | p.Asp2489Gly | D2489G | c.7466A>G | 15 | 30 | Class C0 | 0.3 | Uncertain | Not Yet Reviewed | 1 | 0.1672 | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.07721826 | 3 - Uncertain | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 80 | p.Iso2490Thr | I2490T | c.7469T>C | 15 | 34 | Class C0 | 0.03 | Benign | Benign | Yes | No | No | No | No | 0 | 0.0722 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.365678298 | 0.544384342 | Other | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/21719596/ | ||
| 81 | p.Leu2510Pro | L2510P | c.7529T>C | 15 | -89 | Class C65 | 0.81 | Pathogenic/Likely Pathogenic | Not Yet Reviewed | Yes (Reduced) | Yes | Yes | Yes | Yes | 1 | 0.6862 | 1 | NF | 0.997 | pathogenic | NA | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 4 | 0.413821091 | 0.016455568 | Other | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/21719596/ | ||
| 82 | p.Gln2561Pro | Q2561P | c.7682A>C | 16 | 65 | Class C15 | 0.29 | Uncertain | Not Yet Reviewed | 1 | NA | 1 | NF | 0.986 | pathogenic | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 83 | p.Phe2562Leu | F2562L | c.7684T>C | 16 | 67 | Class C15 | 0.29 | Uncertain | Not Yet Reviewed | 1 | NA | 1 | NF | 0.992 | pathogenic | NA | NA | NA | NA | NA | NA | NA | 0.779082798 | 0.002094506 | Other | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 84 | p.Gly2585Arg | G2585R | c.7753G>A | 16 | -53 | Class C65 | 0.81 | Uncertain/Likely Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 0.996 | pathogenic | NO | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 85 | p.Leu2587Phe | L2587F | c.7759C>T | 16 | -47 | Class C15 | 0.29 | Uncertain/Likely Pathogenic | Not Yet Reviewed | 0.002 | 0.0454 | 0 | F | 0.001 | benign | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 86 | p.Gly2596Arg | G2596R | c.7786G>A | 16 | -20 | Class C65 | 0.81 | Uncertain | Not Yet Reviewed | 1 | NA | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | 2.633966987 | 1.51805E-06 | Other | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 87 | p.Gly2596Glu | G2596E | c.7787G>A | 16 | -19 | Class C55 | 0.66 | Uncertain | Not Yet Reviewed | 1 | NA | 1 | NF | 0.995 | pathogenic | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 88 | p.Asp2611Gly | D2611G | c.7832A>G | 17 | 27 | Class C65 | 0.81 | Uncertain | Not Yet Reviewed | 1 | NA | 1 | NF | 0.879 | intermediate | NA | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 4 | NA | NA | NA | NA | NA | Non-functional | 0.534329877 | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 89 | p.Asn2622Ser | N2622S | c.7865A>G | 17 | 60 | Class C45 | 0.66 | Uncertain | Not Yet Reviewed | 0.0192 | 0.3164 | 0.002 | F | NA | NA | NA | NA | NA | fClass 4 | fClass 5 | fClass 4 | fClass 4 | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 90 | p.His2623Arg | H2623R | c.7868A>G | 17 | 63 | Class C25 | 0.29 | Uncertain/Likely Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 0.995 | pathogenic | NA | NA | NA | fClass 4 | fClass 5 | fClass 4 | fClass 4 | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 91 | p.Trp2626Cys | W2626C | c.7878G>C | 17 | 73 | Class C65 | 0.81 | Pathogenic | Not Yet Reviewed | Yes (Reduced) | Yes | Yes | Yes | Yes | 1 | 0.691 | 1 | NF | NA | NA | No | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 5 | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/21719596/ | ||
| 92 | p.Lys2630Gln | K2630Q | c.7888A>C | 17 | 83 | Class C45 | 0.66 | No data | Not Yet Reviewed | 1 | NA | 1 | NF | 0.972 | pathogenic | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 93 | p.Leu2647Pro | L2647P | c.7940T>C | 17 | -37 | Class C65 | 0.81 | Likely Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 1 | pathogenic | No | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 4 | NA | NA | NA | 0.9514 | 4 - Likely pathogenic | Non-functional | 0.0085775 | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 94 | p.Leu2653Pro | L2653P | c.7958T>C | 17 | -19 | Class C65 | 0.81 | Pathogenic/Likely Pathogenic | Not Yet Reviewed | Yes (Reduced) | Yes | ND | Yes | Yes | 1 | 0.6216 | 1 | No effect | NF | 1 | pathogenic | No | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 5 | NA | NA | NA | 0.9903 | 5 - Definitely pathogenic | Non-functional | 0.251756 | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 95 | p.Arg2659Gly | R2659G | c.7975A>G | 17 | -2 | Class C65 | 0.81 | Uncertain/Likely Pathogenic | Pathogenic | 1 | NA | 1 | Yes, moderate effect on exon 17 skipping | NF | 0.92 | intermediate | NA | NA | NA | fClass 4 | fClass 5 | fClass 4 | fClass 4 | NA | NA | NA | 0.999974994 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 96 | p.Arg2659Lys | R2659K | c.7976G>A | 17 | -1 | Class C25 | 0.34 | Pathogenic | Not Yet Reviewed | 1 | NA | 1 | Yes, skips exon17 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.99943 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 97 | p.Arg2659Thr | R2659T | c.7976G>C | 17 | -1 | Class C65 | 0.81 | Pathogenic | Pathogenic | 1 | NA | 1 | Yes, skips exon17 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.998 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 98 | p.Glu2663Val | E2663V | c.7988A>T | 18 | 12 | Class C65 | 0.81 | Pathogenic | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.999 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 99 | p.Ser2670Leu | S2670L | c.8009C>T | 18 | 33 | Class C15 | 0.29 | Pathogenic/Likely Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 0.99 | pathogenic | NA | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 4 | NA | NA | NA | 0.98302223 | 4 - Likely Pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 100 | p.Thr2681Arg | T2681R | c.8042C>G | 18 | 66 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | 0.0028 | 0.1666 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.1206 | 3 - Uncertain | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 101 | p.Leu2686Pro | L2686P | c.8057T>C | 18 | 81 | Class C45 | 0.66 | Likely Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 0.994 | pathogenic | No | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 4 | 0.501907511 | 0.009970486 | Other | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 102 | p.Leu2688Pro | L2688P | c.8063T>C | 18 | 87 | Class C65 | 0.81 | Uncertain/Likely Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 1 | pathogenic | No | NA | NA | fClass 5 | fClass 5 | fClass 4 | fClass 4 | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 103 | p.Ser2691Phe | S2691F | c.8072C>T | 18 | 96 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | 1 | NA | 1 | No effect | NF | 0.87 | intermediate | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 104 | p.Ser2695Leu | S2695L | c.8084C>T | 18 | 108 | Class C0 | 0.03 | Uncertain/Likely Benign | Not Yet Reviewed | Yes | No | ND | No | ND | 0 | 0.0236 | 0 | No effect | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 105 | p.Thr2708fs | T2708Nfs(8122insA) | c.8122insA | 18 | No Data | No data | Yes (Reduced) | Yes | ND | ND | ND | 1 | 0.995 | 1 | No effect | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||
| 106 | p.Leu2721His | L2721H | c.8162T>A | 18 | -170 | Class C25 | 0.29 | Uncertain | Not Yet Reviewed | 1 | NA | 1 | NF | 0.994 | pathogenic | No | NA | NA | fClass 4 | fClass 5 | fClass 4 | fClass 4 | NA | NA | NA | 0.1752 | 3 - Uncertain | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 107 | p.Thr2722Arg | T2722R | c.8165C>G | 18 | -167 | Class C65 | 0.81 | Pathogenic/Likely Pathogenic | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | Yes, minor skipping of exon 18 | NF | 1 | pathogenic | No | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 4 | NA | NA | NA | 0.9975 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | |
| 108 | p.Asp2723His | D2723H | c.8167G>C | 18 | -165 | Class C65 | 0.81 | Pathogenic | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | NF | 1 | pathogenic | No | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 4 | NA | NA | NA | 1 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 109 | p.Asp2723Val | D2723A | c.8168A>C | 18 | -164 | Class C65 | 0.81 | Uncertain/Likely Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 0.994 | pathogenic | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 110 | p.Asp2723Val | D2723V | c.8168A>T | 18 | -164 | Class C65 | 0.81 | Uncertain/Likely Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 0.997 | pathogenic | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 111 | p.Tyr2726Cys | Y2726C | c.8177A>G | 18 | -155 | Class C65 | 0.81 | Uncertain/Likely Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 0.94 | intermediate | NA | NA | NA | NA | NA | NA | NA | -0.554140879 | 0.750786563 | Other | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 112 | p.Val2728Iso | V2728I | c.8182G>A | 18 | -150 | Class C0 | 0.03 | Benign/Likely Benign | Benign | Yes | No | ND | No | ND | I | benign | NA | NA | NA | NA | NA | NA | NA | 0.119506328 | 0.020051034 | Other | 0.000345012 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||||||
| 113 | p.Val2728Iso | V2728I | c.8182G>A | 18 | -150 | Class C0 | 0.03 | Benign/Likely Benign | Benign | 0.0148 | 0.8716 | 0.1034 | I | 0 | benign | NA | NA | NA | NA | NA | NA | NA | 0.119506328 | 0.020051034 | Other | 0.000345012 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 114 | p.Lys2729Asn | K2729N | c.8187G>T | 18 | -145 | Class C0 | 0.03 | Benign/Likeli Benign | Benign | Yes | No | No | No | No | 0 | 0.2524 | 0 | F | 0 | benign | Yes | 70 | 53 | fClass 2 | fClass 2 | fClass 2 | fClass 2 | NA | NA | NA | 0.00005 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/21719596/ | ||
| 115 | p.Val2739Iso | V2739I | c.8215G>A | 18 | -117 | Class C0 | 0.03 | Benign/Uncertain | Not Yet Reviewed | 0.0302 | 0.0506 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.56625 | 0.9747891 | LOF | 0.083262903 | 3 - Uncertain | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 116 | p.Leu2740Ter | L2740X | c.8219T>A | 18 | -113 | 0.99 | Pathogenic | Pathogenic | 1 | NA | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||||
| 117 | p.Arg2784Trp | R2784W | c.8350C>T | 19 | 19 | Class C65 | 0.81 | Uncertain/Likely Pathogenic | Not Yet Reviewed | Yes (Reduced) | Yes | ND | ND | ND | 0.9952 | 0.9724 | 0.9998 | NF | 1 | pathogenic | Poor | 15 | 51 | fClass 4 | fClass 5 | fClass 4 | fClass 4 | 0.495824801 | 0.004212595 | Other | 0.8365 | 3 - Uncertain | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||
| 118 | p.Ala2786Thr | A2786T | c.8356G>A | 19 | 25 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 119 | p.Ala2786Pro | A2786P | c.8356G>C | 19 | 25 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | 1 | NA | 1 | NF | 0.657 | intermediate | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 120 | p.Trp2788Ser | W2788S | c.8363G>C | 19 | 32 | Class C35 | 0.66 | Uncertain | Not Yet Reviewed | 0.0516 | 0.9976 | 0.9444 | I | 0.99 | pathogenic | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 121 | p.Gly2793Arg | G2793R | c.8377G>A | 19 | 46 | Class C65 | 0.81 | Pathogenic | Not Yet Reviewed | 1 | NA | 1 | NF | 0.998 | pathogenic | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 122 | p.Pro2798Leu | P2798L | c.8393C>T | 19 | 62 | Class C65 | 0.81 | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | |||
| 123 | p.Gln2829Ter | Q2829X | c.8485C>T | 19 | -3 | 0.99 | Pathogenic | Pathogenic | 1 | NA | 1 | Yes, skips exon 19 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 124 | p.Gln2829Leu | Q2829L | c.8486A>T | 19 | -2 | Class C0 | 0.34 | Uncertain | Not Yet Reviewed | 1 | NA | 1 | Yes, skips exon 19 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 125 | p.Gln2829Arg | Q2829R | c.8486A>G | 19 | -2 | Class C0 | 0.34 | Uncertain/Likely Pathogenic/Pathogenic | Not Yet Reviewed | 1 | NA | 1 | Yes, skips exon 19 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.120324764 | 0.08095906 | Other | 0.933371967 | 3 - Uncertain | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||
| 126 | p.Glu2856Ala | E2856A | c.8567A>C | 20 | -66 | Class C0 | 0.03 | Benign/LikelyBenign/Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | 0 | benign | Yes | 82 | 63 | NA | NA | NA | NA | NA | NA | NA | 0.0398 | 2 - Likely not pathogenic or of little clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 127 | p.Gly2901Asp | G2901D | c.8702G>A | 21 | -53 | Class C65 | 0.81 | Benign/LikelyBenign/Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | 0.003 | benign | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 128 | p.Iso2944Phe | I2944F | c.8830A>T | 22 | 76 | Class C0 | 0.03 | Benign/Likely Benign | Benign | Yes | No | ND | No | ND | 2.00E-04 | 0.021 | 0 | No effect | F | NA | NA | NA | NA | NA | fClass 1 | fClass 1 | fClass 1 | fClass 1 | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 129 | IVS22-5delAACA | c.8954-5_8954-2delAACA | Uncertain/Likely Benign/Benign | No data | Yes | No | ND | No | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | |||||||
| 130 | p.Ser2988Gly | S2988G | c.8962A>G | 23 | 9 | Class C0 | 0.3 | Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | 0 | benign | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 131 | p.Glu3002Lys | E3002K | c.9004G>A | 23 | 51 | Class C55 | 0.66 | Pathogenic/Likely Pathogenic | Not Yet Reviewed | No | ND | ND | ND | ND | 1 | NA | 1 | No effect | NF | 0.996 | pathogenic | No | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.936938571 | 3 - Uncertain | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 132 | p.Tyr3035Cys | Y3035C | c.9104A>G | 23 | -14 | Class C55 | 0.66 | Uncertain/Likely Benign | Not Yet Reviewed | Yes | NO | ND | No | ND | NA | NA | NA | F | 0 | benign | NA | NA | NA | fClass 1 | fClass 1 | fClass 1 | fClass 1 | 0.365640401 | 0.021580303 | Other | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 133 | p.Tyr3035Phe | Y3035F | c.9104A>T | 23 | -14 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | Yes | NO | ND | No | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 134 | p.Tyr3035Ser | Y3035S | c.9104A>C | 23 | -14 | Class C55 | 0.66 | Uncertain/Likely Benign | Not Yet Reviewed | Yes | Yes (not in MMC and IR) | ND | Yes (moderate) | ND | NA | NA | NA | F | 0.06 | intermediate | NA | NA | NA | fClass 2 | fClass 1 | fClass 2 | fClass 2 | NA | NA | NA | 0.012548019 | 2 - Likely not pathogenic or of little clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 135 | p.Gln3036Glu | Q3036E | c.9106C>G | 23 | -12 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | Yes | NO | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 136 | p.Pro3039Pro | P3039P | c.9117G>T | 23 | -1 | 0.97 | Pathogenic | No data | No | ND | ND | ND | ND | NA | NA | NA | Yes, Skips exon 23 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/32393398/ | ||
| 137 | p.Arg3052Trp | R3052W | c.9154C>T | 24 | 37 | Class C65 | 0.81 | Pathogenic | Pathogenic | No | ND | ND | ND | ND | NA | NA | NA | NF | 1 | pathogenic | No | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 5 | NA | NA | NA | 1 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 138 | p.Arg3052Gln | R3052Q | c.9155G>A | 24 | 38 | Class C35 | 0.66 | Likely benign/Uncertain | Not Yet Reviewed | Yes | No/Mild | ND | ND | ND | NA | NA | NA | F | NA | NA | Yes | 50 | 105 | NA | NA | NA | NA | 0.20717 | 0.013144 | Other | 0.008431864 | Likely Benign | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 139 | p.Pro3063Ser | P3063S | c.9187C>T | 24 | 70 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | 0.1998 | 0.1978 | 0.1278 | I | 0 | benign | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 140 | p.Asp3064Asn | D3064N | c.9190G>A | 24 | -67 | Class C0 | 0.03 | Uncertain/Likely Benign | Not Yet Reviewed | 0.0004 | 0.0566 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | -0.234471932 | 0.129340129 | Other | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 141 | p.Asp3064Tyr | D3064Y | c.9190G>T | 24 | -67 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | 0.01 | 0.0688 | 0 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 142 | p.Phe3065Leu | F3065L | c.9195T>A | 24 | -62 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | 0.0236 | 0.0448 | 0.0006 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 143 | p.Gln3066Glu | Q3066E | c.9196C>G | 24 | -61 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | 0.0152 | 0.0336 | 0.0004 | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 144 | p.Cys3069Ter | C3069X | c.9207T>A | 24 | -50 | 0.99 | Pathogenic | Pathogenic | 1 | 0.9924 | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||||
| 145 | p.Asp3073Gly | D3073G | c.9218A>G | 24 | -39 | Class C65 | 0.81 | Uncertain | Not Yet Reviewed | 0.8888 | 0.9996 | 0.9966 | NF | 0.98 | pathogenic | NA | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 5 | -0.384698004 | 0.568260244 | Other | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||
| 146 | p.Asp3095Glu | D3095E | c.9285C>G | 25 | 29 | Class C35 | 0.66 | Pathogenic/Likely Pathogenic | Not Yet Reviewed | No | ND | ND | ND | ND | 1 | NA | 1 | No effect | NA | 1 | pathogenic | No | NA | NA | fClass 5 | fClass 5 | fClass 5 | fClass 4 | NA | NA | NA | 0.9775 | 4 - Likely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 147 | p.Lys3115Arg | K3115R | c.9344A>G | 25 | 88 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | Yes | NO | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 148 | p.Asn3124Iso | N3124I | c.9371A>T | 25 | 115 | Class C65 | 0.81 | Pathogenic/Likely Pathogenic | Pathogenic | No | ND | ND | ND | ND | 1 | NA | 1 | No effect | NF | 1 | pathogenic | No | NA | NA | fClass 4 | fClass 5 | fClass 5 | fClass 4 | NA | NA | NA | 0.999999994 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/22678057/ | |
| 149 | p.Leu3180Phe | L3180F | c.9538C>T | 26 | 37 | Class C0 | 0.03 | Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0.230301452 | 0.011815075 | Other | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | ||
| 150 | p.Tyr3225fs | Y3225Ifs | c.9672dupA (9900insA) | 27 | No Data | Pathogenic | 1 | NA | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | ||||||||||
| 151 | p.Cys3233fs | C3233Wfs | c.9699_9702delTATG (9927del4) | 27 | No Data | Pathogenic | 0.9996 | 0.9744 | 1 | No effect | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||||||||
| 152 | p.Ser3303Cys | S3303C | c.9907A>T | 27 | Class C15 | 0.29 | Uncertain | Not Yet Reviewed | Yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | https://pubmed.ncbi.nlm.nih.gov/33314489/ | |||
| 153 | p.Tyr3308Ter | Y3308X | c.9924C>G | 27 | 276 | 0.99 | Pathogenic | Pathogenic | Yes (Reduced) | yes | yes | yes | yes | 1 | 0.9392 | 1 | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7722754/ | |||
| 154 | p.Glu3309Ter | E3309X | c.9925G>T | 27 | 277 | 0.5 | Pathogenic | Uncertain significance | Yes (Reduced) | yes | ND | ND | ND | NA | NA | NA | NF | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | >0.99 | 5 - Definitely pathogenic | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||
| 155 | p.Lys3326Ter | K3326X | c.9976A>T | 27 | 328 | Benign | Benign | Yes | No | ND | ND | ND | NA | NA | NA | F | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | NA | 0 | 1 - Not pathogenic or of no clinical significance | NA | NA | https://pubmed.ncbi.nlm.nih.gov/18607349/ | ||||
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