View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
LOVD - Variant listings for BRCA1

662 entries
entries per page

Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
Ascending
Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
- 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
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
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
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
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
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
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
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
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
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
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
2 c.53T>C
  (Reported 2 times)		 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
2 c.65T>C 184T>C p.L22S 0.9940 5 - Definitely pathogenic Easton et al 2007 (PMID17924331), Sweet et al. 2010 (PMID9543972) Tavtigian et al. 2008 0.81 0.01 0.00 0.81 - - 38.88 - - 38.88 - BRCA1_00111
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
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
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
2 c.80+3A>C IVS2+3A>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 1.9975 - - - - 1.9975 - BRCA1_00648
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
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
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
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
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
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
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
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
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
Ascending
Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
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
3 c.81-13C>G IVS2-13C>G - 0.000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Vallee et al. 2016 - 0.34 0.00 0.34 1 - 0.07 0.01 - 8.51E-04 - BRCA1_00133
3 c.81-11delT IVS2-11delT - 0.000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Vallee et al. 2016 - 0.34 0.00 0.34 1 - 0.03 4.07E-03 - 1.32E-04 - BRCA1_00132
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
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
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
3 c.110C>A 229C>A p.T37K 0.9996 5 - Definitely pathogenic Sweet et al., 2010 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 - 8.73 72.68 - - 634.496 - BRCA1_00112
3 c.115T>C 234T>C p.C39R 0.9933 5 - Definitely pathogenic Sweet et al., 2010 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 - 3.586 9.65 - - 34.6049 - BRCA1_00113
3 c.121C>T 240C>T p.H41Y - - Parsons et al 2019 - 0.81 - 0.02 0.81 1.6597 - - - - 1.6597 - BRCA1_00209
3 c.122A>G 241A>G p.H41R 0.995 5 - Definitely pathogenic Whiley et al., 2014 Tavtigian et al. 2008 0.29 0.02 0.00 0.29 159.17 2.95 - - - 469.55 - BRCA1_00130
3 c.130T>A 249T>A p.C44S 0.9984 5 - Definitely pathogenic Sweet et al., 2010 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 - - 149.6 - - 149.6 - BRCA1_00115
3 c.131G>A 250G>A p.C44Y 0.9972 5 - Definitely pathogenic Sweet et al., 2010 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 - 2.95 28.25 - - 83.3375 - BRCA1_00114
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
3 c.133A>C 252A>C p.K45Q 0.00080 1 - Not pathogenic or of no clinical significance Sweet et al., 2010 Tavtigian et al. 2008 0.03 0.04 0.00 0.03 - 0.0193 1.344 - - 0.02594 - BRCA1_00116
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
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
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
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
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
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
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
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
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
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
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
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
Ascending
Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
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
5 c.179A>G 298A>G p.Q60R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.15 - - - 1.15 - BRCA1_00261
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
5 c.181T>G 300T>G p.C61G 0.9998 5 - Definitely pathogenic Spearman et al. 2008 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 - 8.703 147.7 - - 1285.43 - BRCA1_00099
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
5 c.199G>T 318G>T p.D67Y 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.03 0.01 0.00 0.03 0.0832 - 0.00059 1.91 - 9.37581E-5 - BRCA1_00052
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
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
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
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
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
5 c.212+3A>G IVS5+3A>G - 1.000 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 - 0.97 0.00 0.97 1 - 1.10E+03 1.32 - 1.45E+03 - BRCA1_00134
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
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
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
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
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
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
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
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
6 c.301+6T>C IVS6+6T>C - 0.001 2 - Likely not pathogenic or of little clinical significance Thomassen et al. 2012 Vallee et al. 2016 - 0.34 0.00 0.34 2.00E-03 - - 1.06 - 2.12E-03 - BRCA1_00148
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
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
6 c.301+10G>A IVS6+10G>A - - - Parsons et al 2019 - - - 0.02 0.02 - - 1.455675089 1.033092037 - 1.503846343 - BRCA1_00358
6 c.301+26A>C IVS6+26A>C - - - Parsons et al 2019 - - - 0.02 0.02 3.7199 0.4 - - - 1.48796 - BRCA1_00359
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
Ascending
Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
Ascending
DB-ID Hide DB-ID column Descending
Ascending
6 c.301+27C>A IVS6+26C>A - - - Parsons et al 2019 - - - 0.02 0.02 1.8818 - - - - 1.8818 - BRCA1_00360
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
6 c.302-1G>C IVS6-1G>C - 1.000 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 - 0.97 0.00 0.97 1 1 69.25 1.03 - 71.33 - BRCA1_00121
7 c.302-3C>G IVS6-3C>G - 1.000 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 - 0.97 0.00 0.97 1 - 190.55 1.17 - 223.87 - BRCA1_00120
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
7 c.314A>G 433A>G p.Y105C 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1.32 - 0.148 0.00003 - 5.86080E-6 - BRCA1_00053
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
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
7 c.370A>G 489A>G p.I124V 0.00014 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1 - 0.00617 1.1 - 0.00679 - BRCA1_00054
7 c.380G>A
  (Reported 2 times)		 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
7 c.396C>A 515C>A p.N132K 0.00017 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - 0.00479 1.698 - 0.00813 - BRCA1_00119
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
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
7 c.425C>A 544C>A p.P142H 0.00000 1 - Not pathogenic or of no clinical significance Chenevix-Trench et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1.7 0.0069 - 0.0043 - 5.04390E-5 - BRCA1_00025
7 c.427G>A 546G>A p.E143K 0.00001 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 0.0813 - 0.00501 1.32 - 0.00054 - BRCA1_00055
7 c.429A>C 548A>C p.E143D - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.36 - - - 1.36 - BRCA1_00686
7 c.441+2T>A IVS7+2T>A - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - - 1.048 - 1.048 - BRCA1_00382
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
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
8 c.463C>G 582C>G p.Q155E 0.00004 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1 - 0.537 0.00355 - 0.00191 - BRCA1_00056
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
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
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
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
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
1 - 100
[<-] 1 2 3 4 5 6 ... [->] [>>]

Legend: [ BRCA1 full legend ]

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.

  Powered by LOVD v.2.0 Build 22
Enabled modules: recaptcha, showmaxdbid, autoFill
©2004-2009 Leiden University Medical Center