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LOVD - Variant listings for BRCA1

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Path. Hide Path. column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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BIC DNA change Hide BIC DNA change column Descending
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Protein change Hide Protein change column Descending
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Posterior P Hide Posterior P column Descending
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Splicing prior P Hide Splicing prior P column Descending
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Other Prior P Hide Other Prior P column Descending
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Combined prior P Hide Combined prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Sum Family LR Hide Sum Family LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
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Comments Hide Comments column Descending
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DB-ID Hide DB-ID column Descending
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Disease Hide Disease column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Remarks Hide Remarks column Descending
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# Reported Hide # Reported column Descending
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- - c.-676T>A - - 0.00648824 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.32 - - - 0.32 - BRCA1_00636 - United States:Salt Lake City DNA SEQ - 1
- 1 c.-19-10T>C IVS1-10T>C - 0.01599425 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 0.0626 - 0.2383744 2.114449539 - 0.031552318 - BRCA1_00626 - United States:Salt Lake City DNA SEQ - 1
- 1 c.-19-5T>C IVS1-5T>C - 0.186313842 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.430243382 1.033092037 - 0.444481012 - BRCA1_00273 - United States:Salt Lake City DNA SEQ - 1
- 1 c.-19-3A>G IVS1-3A>G - 0.000863879 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.97 0.02 0.97 - 1 - - 2.6741E-05 0.000026741 - BRCA1_00272 - United States:Salt Lake City DNA SEQ - 1
- 2 c.-14T>C 5'UTR106T>C - 0.245376397 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - - 15.42266644 1.033092037 - 15.93303389 - BRCA1_00238 - United States:Salt Lake City DNA SEQ - 1
- 2 c.1A>G 120A>G p.M1V 0.985491446 4 - Likely Pathogenic Parsons et al 2019 - - - 0.02 0.96 1.27139304 2.226064 - - - 2.830202277 - BRCA1_00279 - United States:Salt Lake City DNA SEQ - 1
- 2 c.3G>T 122G>T p.M1I 0.994371232 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.96 1.9734 3.73 - - - 7.360782 - BRCA1_00428 - United States:Salt Lake City DNA SEQ - 1
- 2 c.10T>C 129T>C p.S4P - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.0367 0.49 - - - 0.507983 - BRCA1_00204 - United States:Salt Lake City DNA SEQ - 1
- 2 c.19C>G 138C>G p.R7G 0.002998405 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.2431 0.4 - - - 0.09724 - BRCA1_00277 - United States:Salt Lake City DNA SEQ - 1
- 2 c.19C>T 138C>T p.R7C - - Parsons et al 2019 - 0.29 - 0.02 0.29 1.0368 - 0.704096958 1.526888007 - 1.114640041 - BRCA1_00278 - United States:Salt Lake City DNA SEQ - 1
- 2 c.43A>C 162A>C p.I15L 0.002026338 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.3304 0.180213076 1.102597599 - 0.065651308 - BRCA1_00475 - United States:Salt Lake City DNA SEQ - 1
- 2 c.53T>C 172T>C p.M18T 0.998289968 5 - Pathogenic Parsons et al 2019 - 0.66 - 0.02 0.66 1.839814285 5.2772 25.47861009 1.215721465 - 300.7373426 - BRCA1_00588 - United States:Salt Lake City DNA SEQ - 1
?/? 2 c.53T>C 172T>C p.M18T 0.9840 4 - Likely pathogenic Easton et al. 2007 (PMID17924331) Tavtigian et al. 2008 0.66 0.01 0.00 0.66 1 - 25.7 1.23 - 31.611 - BRCA1_00040 - - DNA SEQ - 1
- 2 c.80+1G>A IVS2+1G>A - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 0.414387178 1.244651749 - 0.515767726 - BRCA1_00480 - United States:Salt Lake City DNA SEQ - 1
- 2 c.80+1G>C IVS2+1G>C - - - Parsons et al 2019 - - 0.97 0.02 0.97 0.9952 - 0.641810162 1.033092037 - 0.659866333 - BRCA1_00646 - United States:Salt Lake City DNA SEQ - 1
- 2 c.80+1G>T IVS2+1G>T - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 1.476165189 1.049836689 - 1.549732374 - BRCA1_00647 - United States:Salt Lake City DNA SEQ - 1
- 2 c.80+3A>C IVS2+3A>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 1.9975 - - - - 1.9975 - BRCA1_00648 - United States:Salt Lake City DNA SEQ - 1
- 2 c.80+5G>A IVS2+5G>A - 0.968819908 4 - Likely Pathogenic Parsons et al 2019 - - 0.34 0.02 0.34 15.0547 1.492 2.599266094 1.033092037 - 60.31574334 - BRCA1_00483 - United States:Salt Lake City DNA SEQ - 1
- 2 c.81-65G>C IVS2-65G>C - 2.45529E-08 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 0.25119808 4.78942E-06 - - 1.46535E-07 0.00000120309 - BRCA1_00711 - United States:Salt Lake City DNA SEQ - 1
- 2 c.81-14C>A IVS2-14C>A - 0.522346036 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - - 1.988986826 1.067279157 - 2.122804183 - BRCA1_00654 - United States:Salt Lake City DNA SEQ - 1
- 2 c.81-14C>T IVS2-14C>T - 1.76047E-08 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 0.00012452 0.003393123 - - - 0.000000422513 - BRCA1_00710 - United States:Salt Lake City DNA SEQ - 1
- 2 c.81-13C>A IVS2-13C>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.404225807 1.297514181 - 0.524488717 - BRCA1_00709 - United States:Salt Lake City DNA SEQ - 1
- 2 c.81-12del IVS2-12delC - 0.003464969 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.04 - - 0.080775381 1.033092037 - 0.083448403 - BRCA1_00708 - United States:Salt Lake City DNA SEQ - 1
- 2 c.81-12dup IVS2-12insC - 0.018322005 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.04 - - 0.419698235 1.067279157 - 0.447935179 - BRCA1_00652 - United States:Salt Lake City DNA SEQ - 1
- 2 c.81-9C>G IVS2-9C>G - 0.99644674 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 8.126408294 1.067279157 - 8.673146196 - BRCA1_00484 - United States:Salt Lake City DNA SEQ - 1
Path. Hide Path. column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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BIC DNA change Hide BIC DNA change column Descending
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Protein change Hide Protein change column Descending
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Posterior P Hide Posterior P column Descending
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Splicing prior P Hide Splicing prior P column Descending
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Other Prior P Hide Other Prior P column Descending
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Combined prior P Hide Combined prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Sum Family LR Hide Sum Family LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
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Comments Hide Comments column Descending
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DB-ID Hide DB-ID column Descending
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Disease Hide Disease column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Remarks Hide Remarks column Descending
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# Reported Hide # Reported column Descending
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- 2 c.81-6T>C IVS2-6T>C - 0.069824614 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - 0.32 0.298230158 1.526888007 - 0.145716496 - BRCA1_00712 - United States:Salt Lake City DNA SEQ - 1
- 3 c.81T>C 200T>C p.C27C - - Parsons et al 2019 - 0.02 0.34 0.02 0.34 - - 0.700020165 1.067279157 - 0.747116932 - BRCA1_00660 - United States:Salt Lake City DNA SEQ - 1
- 3 c.83T>C 202T>C p.L28P 0.635896419 3 - Uncertain Parsons et al 2019 - 0.81 0.04 0.02 0.81 - - 0.383841549 1.067279157 - 0.409666085 - BRCA1_00664 - United States:Salt Lake City DNA SEQ - 1
- 3 c.97G>C 216G>C p.E33Q - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.599508314 1.067279157 - 0.639842728 - BRCA1_00674 - United States:Salt Lake City DNA SEQ - 1
- 3 c.121C>T 240C>T p.H41Y - - Parsons et al 2019 - 0.81 - 0.02 0.81 1.6597 - - - - 1.6597 - BRCA1_00209 - United States:Salt Lake City DNA SEQ - 1
- 3 c.131G>T 250G>T p.C44F 0.999963582 5 - Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 156.1745 41.240528 - - - 6440.71884 - BRCA1_00217 - United States:Salt Lake City DNA SEQ - 1
- 3 c.134A>C 253A>C p.K45T 0.001772917 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 0.04 0.02 0.04 - - 0.038659242 1.102597599 - 0.042625587 - BRCA1_00221 - United States:Salt Lake City DNA SEQ - 1
- 3 c.134+5G>A IVS3+5G>A - 0.5804184 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - - 2.599266094 1.033092037 - 2.685281104 - BRCA1_00219 - United States:Salt Lake City DNA SEQ - 1
- 3 c.134+5G>T IVS3+5G>T - 0.1490459 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - 0.34 - - - 0.34 - BRCA1_00289 - United States:Salt Lake City DNA SEQ - 1
- 3 c.135-20T>G IVS4-20T>G - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.914806725 1.033092037 - 0.945079543 - BRCA1_00225 - United States:Salt Lake City DNA SEQ - 1
- 3 c.135-18T>G IVS4-18T>G - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.641810162 1.067279157 - 0.684990609 - BRCA1_00293 - United States:Salt Lake City DNA SEQ - 1
- 3 c.135-1G>T IVS4-1G>T - 0.999998384 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 9528 2.008856151 - - - 19140.3814 - BRCA1_00294 - United States:Salt Lake City DNA SEQ - 1
- 5 c.135-?_441+?dup Exon 5-7dup - 0.876576367 3 - Uncertain Parsons et al 2019 - - - 0.02 0.96 0.1772 1.67 - - - 0.295924 - BRCA1_00222 - United States:Salt Lake City DNA SEQ - 1
- 5 c.140G>A 259G>A p.C47Y 0.999999713 5 - Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 13545 60.31 - - - 816898.95 - BRCA1_00231 - United States:Salt Lake City DNA SEQ - 1
- 5 c.154C>A 273C>A p.L52I 0.004114034 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.125149957 1.067279157 - 0.133569941 - BRCA1_00243 - United States:Salt Lake City DNA SEQ - 1
- 5 c.154C>T 273C>T p.L52F 0.125674152 3 - Uncertain Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.215947303 1.629615745 - 0.351911125 - BRCA1_00244 - United States:Salt Lake City DNA SEQ - 1
- 5 c.172C>A 291C>A p.P58T - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.389376475 1.033092037 - 1.435353773 - BRCA1_00252 - United States:Salt Lake City DNA SEQ - 1
- 5 c.172C>G 291C>G p.P58A 0.014928405 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.49 - - - 0.49 - BRCA1_00253 - United States:Salt Lake City DNA SEQ - 1
- 5 c.179A>G 298A>G p.Q60R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.15 - - - 1.15 - BRCA1_00261 - United States:Salt Lake City DNA SEQ - 1
- 5 c.181T>A 300T>A p.C61G 0.956784356 4 - Likely Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 1.3923 3.73 - - - 5.193279 - BRCA1_00623 - United States:Salt Lake City DNA SEQ - 1
- 5 c.191G>A 310G>A p.C64Y 1 5 - Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 5300394.003 189.0906459 - - - 1002254926 - BRCA1_00629 - United States:Salt Lake City DNA SEQ - 1
- 5 c.203T>A 322T>A p.I68K 0.822262834 3 - Uncertain Parsons et al 2019 - 0.66 - 0.02 0.66 - - 2.306897919 1.033092037 - 2.383237871 - BRCA1_00282 - United States:Salt Lake City DNA SEQ - 1
- 5 c.211A>G 330A>G p.R71G 0.99938835 5 - Pathogenic Parsons et al 2019 - 0.81 0.34 0.02 0.81 383.2655792 - - - - 383.2655792 - BRCA1_00288 - United States:Salt Lake City DNA SEQ - 1
- 5 c.212G>A 331G>A p.R71K - - Parsons et al 2019 - 0.29 0.97 0.02 0.97 1.9779 - - - - 1.9779 - BRCA1_00207 - United States:Salt Lake City DNA SEQ - 1
- 5 c.212+1G>A IVS5+1G>A - 0.999995379 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1794.175683 3.73 - - - 6692.275297 - BRCA1_00309 - United States:Salt Lake City DNA SEQ - 1
Path. Hide Path. column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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BIC DNA change Hide BIC DNA change column Descending
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Protein change Hide Protein change column Descending
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Posterior P Hide Posterior P column Descending
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Splicing prior P Hide Splicing prior P column Descending
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Other Prior P Hide Other Prior P column Descending
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Combined prior P Hide Combined prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Sum Family LR Hide Sum Family LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
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Comments Hide Comments column Descending
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DB-ID Hide DB-ID column Descending
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Disease Hide Disease column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Remarks Hide Remarks column Descending
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# Reported Hide # Reported column Descending
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- 5 c.212+1G>T IVS5+1G>T - 0.998791316 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 7.649524872 3.3410048 - - - 25.55709932 - BRCA1_00321 - United States:Salt Lake City DNA SEQ - 1
- 5 c.212+21G>A IVS5+21G>A - 0.050387597 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - 2.6 - - - 2.6 - BRCA1_00290 - United States:Salt Lake City DNA SEQ - 1
- 5 c.212+29G>A IVS5+29G>A - 0.008097166 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.4 - - - 0.4 - BRCA1_00291 - United States:Salt Lake City DNA SEQ - 1
- 5 c.213-12A>G IVS5-12A>G - 0.999999999 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 29429.37873 1132.138382 - - - 33318129.21 - BRCA1_00323 - United States:Salt Lake City DNA SEQ - 1
- 6 c.216C>A 335C>A p.S72R - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 1.27958483 1.067279157 - 1.365674219 - BRCA1_00296 - United States:Salt Lake City DNA SEQ - 1
- 6 c.230C>T 349C>T p.T77R 0.895792298 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.3 - 16.4493 1.10591011 1.102597599 - 20.05784597 - BRCA1_00637 - United States:Salt Lake City DNA SEQ - 1
- 6 c.230_238del 349delCGAGATTTA p.T77_F79del 0.983204312 4 - Likely Pathogenic Parsons et al 2019 - - - 0.02 0.66 1.8333 16.4493 - - - 30.15650169 - BRCA1_00308 - United States:Salt Lake City DNA SEQ - 1
- 6 c.259T>G 378T>G p.L87V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.359138616 1.067279157 - 1.450580317 - BRCA1_00328 - United States:Salt Lake City DNA SEQ - 1
- 6 c.267C>G 386C>G p.I89M - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.914806725 1.176779436 - 1.076525742 - BRCA1_00335 - United States:Salt Lake City DNA SEQ - 1
- 6 c.301+7G>A IVS6+7G>A - 9.89343E-13 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 1.363440054 0.001087452 0.037415892 0.068385089 1.27785E-05 4.84778e-11 - BRCA1_00653 - United States:Salt Lake City DNA SEQ - 1
- 6 c.301+8T>C IVS6+8T>C - 0.00425963 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.120519844 1.739254919 - 0.209614732 - BRCA1_00362 - United States:Salt Lake City DNA SEQ - 1
- 6 c.301+10G>A IVS6+10G>A - - - Parsons et al 2019 - - - 0.02 0.02 - - 1.455675089 1.033092037 - 1.503846343 - BRCA1_00358 - United States:Salt Lake City DNA SEQ - 1
- 6 c.301+26A>C IVS6+26A>C - - - Parsons et al 2019 - - - 0.02 0.02 3.7199 0.4 - - - 1.48796 - BRCA1_00359 - United States:Salt Lake City DNA SEQ - 1
- 6 c.301+27C>A IVS6+26C>A - - - Parsons et al 2019 - - - 0.02 0.02 1.8818 - - - - 1.8818 - BRCA1_00360 - United States:Salt Lake City DNA SEQ - 1
- 6 c.302-2del IVS6-2delA - 0.999999999 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.97 58263.43937 387.6735235 1.870300597 1.430636021 - 60436990.13 - BRCA1_00327 - United States:Salt Lake City DNA SEQ - 1
- 7 c.305C>G 424C>G p.A102G 0.000723806 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.030160451 1.176779436 - 0.035492198 - BRCA1_00367 - United States:Salt Lake City DNA SEQ - 1
- 7 c.332A>C 451A>C p.E111A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.641810162 1.033092037 - 0.663048968 - BRCA1_00384 - United States:Salt Lake City DNA SEQ - 1
- 7 c.347A>G 466A>G p.E116G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.318751854 1.033092037 - 1.362392039 - BRCA1_00395 - United States:Salt Lake City DNA SEQ - 1
- 7 c.380G>A 499G>A p.S127N 0.07871217 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 3.675247381 1.1390848 - 4.186418427 - BRCA1_00413 - United States:Salt Lake City DNA SEQ - 1
?/? 7 c.380G>A 499G>A p.S127N 0.1645 3 - Uncertain Spearman et al. 2008 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - 9.65 - - 9.65 - BRCA1_00103 - United States:Salt Lake City DNA SEQ - 1
- 7 c.397C>T 516C>T p.R133G 3.11854E-07 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0001 0.4 0.357939218 1.067279157 - 0.0000152808 - BRCA1_00425 - United States:Salt Lake City DNA SEQ - 1
- 7 c.398G>A 517G>A p.R133H 0.002724453 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.117517927 1.1390848 - 0.133862884 - BRCA1_00427 - United States:Salt Lake City DNA SEQ - 1
- 7 c.429A>C 548A>C p.E143D - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.36 - - - 1.36 - BRCA1_00686 - United States:Salt Lake City DNA SEQ - 1
- 7 c.441+2T>A IVS7+2T>A - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - - 1.048 - 1.048 - BRCA1_00382 - United States:Salt Lake City DNA SEQ - 1
- 8 c.442C>T 561C>T p.Q148E - - Parsons et al 2019 - 0.99 0.34 0.02 0.99 - - 0.64538081 1.067279157 - 0.688801487 - BRCA1_00478 - United States:Salt Lake City DNA SEQ - 1
Path. Hide Path. column Descending
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Exon Hide Exon column Descending
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DNA change   Descending
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BIC DNA change Hide BIC DNA change column Descending
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Protein change Hide Protein change column Descending
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Posterior P Hide Posterior P column Descending
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IARC Class Hide IARC Class column Descending
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Key Observational Reference Hide Key Observational Reference column Descending
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Prior P reference Hide Prior P reference column Descending
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Missense analysis Prior P Hide Missense analysis Prior P column Descending
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Splicing prior P Hide Splicing prior P column Descending
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Other Prior P Hide Other Prior P column Descending
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Combined prior P Hide Combined prior P column Descending
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Segregation LR Hide Segregation LR column Descending
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Pathology LR Hide Pathology LR column Descending
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Sum Family LR Hide Sum Family LR column Descending
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Co-occurrence LR Hide Co-occurrence LR column Descending
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case-control LR Hide case-control LR column Descending
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Product of LRs Hide Product of LRs column Descending
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Comments Hide Comments column Descending
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DB-ID Hide DB-ID column Descending
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Disease Hide Disease column Descending
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Reference Hide Reference column Descending
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Template Hide Template column Descending
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Technique Hide Technique column Descending
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Remarks Hide Remarks column Descending
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# Reported Hide # Reported column Descending
Ascending
- 8 c.455T>C 574T>C p.L152P 0.005104767 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.22802243 1.102597599 - 0.251416984 - BRCA1_00492 - United States:Salt Lake City DNA SEQ - 1
- 8 c.469T>C 588T>C p.S157P 0.008291213 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.383841549 1.067279157 - 0.409666085 - BRCA1_00506 - United States:Salt Lake City DNA SEQ - 1
- 8 c.478G>C 597G>C p.G160R 0.002342184 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.111351606 1.033092037 - 0.115036457 - BRCA1_00516 - United States:Salt Lake City DNA SEQ - 1
- 8 c.484G>T 603G>T p.V162M - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.237584127 1.067279157 - 1.320847744 - BRCA1_00520 - United States:Salt Lake City DNA SEQ - 1
- 8 c.508C>T 627C>T p.R170G 0.000758678 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.544 0.064077593 1.067279157 - 0.037203442 - BRCA1_00540 - United States:Salt Lake City DNA SEQ - 1
- 8 c.509G>A 628G>A p.R170Q 0.145805876 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 1.896600838 4.41 - - - 8.364009697 - BRCA1_00543 - United States:Salt Lake City DNA SEQ - 1
- 8 c.535T>C 654T>C p.Y179H 0.005959375 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.29376 - - - 0.29376 - BRCA1_00584 - United States:Salt Lake City DNA SEQ - 1
- 8 c.547+1G>T IVS8+1G>T - 0.99058587 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.9487 1.67 - - - 3.254329 - BRCA1_00601 - United States:Salt Lake City DNA SEQ - 1
- 8 c.548-16G>A IVS8-16G>A - 0.220879692 3 - Uncertain Parsons et al 2019 - - 0.5 0.02 0.5 - - 0.274417782 1.033092037 - 0.283498825 - BRCA1_00604 - United States:Salt Lake City DNA SEQ - 1
- 8 c.548-13G>T IVS8-13G>T - 0.011738473 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.275938267 1.033092037 - 0.285069626 - BRCA1_00603 - United States:Salt Lake City DNA SEQ - 1
- 8 c.548-9del IVS8-9delA - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.907130133 1.297514181 - 1.177014211 - BRCA1_00606 - United States:Salt Lake City DNA SEQ - 1
- 8 c.548-3del IVS8-3delT - - - Parsons et al 2019 - - - 0.02 0.5 - - 0.594053557 1.034 - 0.614251378 - BRCA1_00702 - United States:Salt Lake City DNA SEQ - 1
- 9 c.551C>T 670C>T p.S184C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.64 - - - 0.64 - BRCA1_00611 - United States:Salt Lake City DNA SEQ - 1
- 9 c.572T>A 691T>A p.V191G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.648011368 1.102597599 - 0.714495779 - BRCA1_00620 - United States:Salt Lake City DNA SEQ - 1
- 9 c.593+3G>A IVS9+3G>A - 0.013077573 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.279189646 1.1390848 - 0.318020682 - BRCA1_00703 - United States:Salt Lake City DNA SEQ - 1
- 9 c.593+9A>G IVS9+9A>G - 0.002178433 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.093914219 1.1390848 - 0.10697626 - BRCA1_00624 - United States:Salt Lake City DNA SEQ - 1
- 9 c.593+10A>G IVS9+10A>G - 0.009418329 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.450962699 1.033092037 - 0.465885974 - BRCA1_00621 - United States:Salt Lake City DNA SEQ - 1
- 9 c.593+16C>G IVS9+16C>G - 0.07773386 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - 4.13 - - - 4.13 - BRCA1_00622 - United States:Salt Lake City DNA SEQ - 1
- 9 c.594-60del IVS9-62delT - - - Parsons et al 2019 - - - 0.02 0.02 1.1841 - - - - 1.1841 - BRCA1_00627 - United States:Salt Lake City DNA SEQ - 1
- 9 c.594-20A>G IVS9-20A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.641810162 1.102597599 - 0.707658344 - BRCA1_00625 - United States:Salt Lake City DNA SEQ - 1
- 9 c.594-4A>G IVS9-4A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.237417811 1.024615386 - 1.267877327 - BRCA1_00704 - United States:Salt Lake City DNA SEQ - 1
- 10 c.601G>A 720G>A p.D201N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.652827954 1.033092037 - 0.674431361 - BRCA1_00628 - United States:Salt Lake City DNA SEQ - 1
- 10 c.668A>G 787A>G p.K223R - - Parsons et al 2019 - 0.02 0.34 0.02 0.34 0.6738 1.8277 - - - 1.23150426 - BRCA1_00716 - United States:Salt Lake City DNA SEQ - 1
- 10 c.670+8C>T IVS10+8C>T - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.652827954 1.033092037 - 0.674431361 - BRCA1_00476 - United States:Salt Lake City DNA SEQ - 1
- 10 c.670+16G>A IVS10+16G>A - 1.35079E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 0.0001043 0.6346 - - - 0.0000661888 - BRCA1_00474 - United States:Salt Lake City DNA SEQ - 1
1 - 100
[<-] 1 2 3 4 5 6 [->]

Legend: [ BRCA1 full legend ]

Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Standard BRCA1 (or BRCA2) exon numbering. DNA change: Sequence variant name in HGVS cDNA sequence based nomenclature. BIC DNA change: Sequence variant name in older BIC nomenclature. Protein change: Sequence variant name in HGVS protein amino acid sequence based nomenclature. Posterior P: Posterior probability in favor of pathogenicity. IARC Class: Qualitative classification in the 5-grade IARC classification scheme. Key Observational Reference: Key Observational Reference Prior P reference: Literature source of the sequence analysis based prior probability in favor of pathogenicity used in the integrated evaluation displayed here. Missense analysis Prior P: This prior probability estimate combines position in the protein with an Align-GVGD based evaluation of missense substitutions that fall in the protein's key functional domains. Splicing prior P: This prior probability estimate evaluates the sequence variant's probability to damage a splice donor, damage a splice acceptor, or create a de novo splice donor. Other Prior P: Custom Priors other than missense or splice (short legend) Combined prior P: The combined prior probability in favor of pathogenicity. is a combination of the missense analysis prior probability and the splicing analysis prior probability. Generally, it is the higher of the two sequence analysis-based prior probabilities. Segregation LR: The likelihood ratio based on segregation analysis. Pathology LR: The likelihood ratio based on tumor pathology and/ or tumor immunohistochemistry. Sum Family LR: The likelihood ratio based on an analysis of the severity of summary family histories of breast and/ or ovarian cancer. Co-occurrence LR: The likelihood ratio based on the frequency of co-occurrence between the variant of interest and clearly pathogenic variants in the same gene. case-control LR: case-control likelihood ratios from iCOGS (short legend) Product of LRs: The product of all of the likelihood ratios Comments: alternate references, caveats, and additional information. BRCA1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported

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