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
16 c.4903G>A 5022G>A p.E1635K 0.087187479 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 4.530327501 1.033092037 - 4.680245267 - BRCA1_00521
16 c.4910C>T 5029C>T p.P1637L 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 0.347 - 0.0148 0.398 - 0.00204 - BRCA1_00090
16 c.4933A>G 5052A>G p.R1645G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.779710926 1.033092037 - 0.805513149 - BRCA1_00522
16 c.4934G>T 5053G>T p.R1645K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.594053557 1.033092037 - 0.613712 - BRCA1_00523
16 c.4941C>A 5060C>A p.N1647K 0.009213543 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.1709 3.31 0.779710926 1.033092037 - 0.455661873 - BRCA1_00524
16 c.4955T>A 5074T>A p.M1652R - - Parsons et al 2019 - 0.66 - 0.02 0.66 - 1.36 0.758063525 1.033092037 - 1.065083172 - BRCA1_00525
16 c.4955T>C 5074T>C p.M1652T 0.00011 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.29 0.01 0.00 0.29 0.012 - 0.0182 1.23 - 0.00027 - BRCA1_00117
16 c.4956G>A 5075G>A p.M1652I 0.00001 1 - Not pathogenic or of no clinical significance Osorio et al. 2007 Tavtigian et al. 2008 0.03 0.01 0.00 0.03 - 0.00268 0.18 - - 0.00048 - BRCA1_00107
16 c.4957G>A 5076G>A p.V1653M - - Parsons et al 2019 - 0.03 - 0.02 0.03 0.9973 - - - - 0.9973 - BRCA1_00526
16 c.4963T>C 5082T>C p.S1655P - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.64 - - - 0.64 - BRCA1_00527
16 c.4964C>T 5083C>T p.S1655C 0.926690175 3 - Uncertain Parsons et al 2019 - 0.29 - 0.02 0.29 8.3757 3.694672 0.907023801 1.102597599 - 30.94801002 - BRCA1_00528
16 c.4985T>C 5104T>C p.F1662S 0.00021 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.03 0.04 0.00 0.04 1 - 1.44 0.00355 - 0.00511 - BRCA1_00091
16 c.4986+3G>C IVS16+3G>C - 0.517634545 3 - Uncertain Parsons et al 2019 - - 0.97 0.02 0.97 7.93035E-05 418.5085524 - - - 0.033189184 - BRCA1_00410
16 c.4986+5G>A IVS16+5G>A - - - Parsons et al 2019 - - 0.97 0.02 0.97 0.9633 - - - - 0.9633 - BRCA1_00718
16 c.4986+6T>G IVS16+6T>G - 0.99999856 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 18.94466598 1134.071346 - - - 21484.60285 - BRCA1_00415
16 c.4986+117A>T IVS16+117A>T - 0.006890961 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.34 - - - 0.34 - BRCA1_00529
16 c.4987-11T>C IVS16-11T>C - 0.032393125 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.060889287 1.067279157 - 0.064985867 - BRCA1_00530
16 c.4987-2A>G IVS16-2A>G - 0.998471334 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.9876 9.698 - 1.048 - 20.20098055 - BRCA1_00420
17 c.4987-20A>G IVS16-20A>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 - 2.69E-03 2.04E-04 - 5.50E-07 - BRCA1_00140
17 c.4987A>T 5106A>T p.M1663V 0.130991298 3 - Uncertain Parsons et al 2019 - 0.03 0.34 0.02 0.34 - - 0.283233308 1.033092037 - 0.292606075 - BRCA1_00431
17 c.4991T>C 5110T>C p.L1664P 0.000 1 - Not pathogenic or of no clinical significance Whiley et al., 2014 Tavtigian et al. 2008 0.03 0.02 0.00 0.03 0.01 - 0.03 1.29 - 3.87E-04 - BRCA1_00131
17 c.5017_5019del 5136delCAC - 0.4790721 3 - Uncertain Parsons et al 2019 - - - 0.02 0.03 17.5575046 1.69360041 - - - 29.73539699 - BRCA1_00690
17 c.5024C>T 5143C>T p.T1675S 3.09269E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.0025 0.4 - - - 0.001 - BRCA1_00531
17 c.5036T>C 5155T>C p.L1679P 0.012219959 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.4 - - - 0.4 - BRCA1_00532
17 c.5044G>A 5163G>A p.E1682K 0.00010 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.03 0.01 0.00 0.03 1 - 1 0.00316 - 0.00316 - BRCA1_00092
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
17 c.5045A>T 5164A>T p.E1682G - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.843402425 1.033092037 - 0.871312329 - BRCA1_00533
17 c.5053A>G 5172A>G p.T1685A 0.9952 5 - Definitely pathogenic Easton et al. 2007 Tavtigian et al. 2008 0.66 0.01 0.00 0.66 1 - 100 1.07 - 107 - BRCA1_00042
17 c.5054C>T 5173C>T p.T1685I 0.9983 5 - Definitely pathogenic Easton et al. 2007 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 1 - 125.89 1.1 - 138.479 - BRCA1_00050
17 c.5062_5064del
  (Reported 2 times)		 5181del3 p.V1688del 0.99312 5 - Definitely pathogenic Easton et al. 2007 Easton et al. 2007 0.35 0.02 0.00 0.35 16.98 - 13.49 1.17 - 268.00 - BRCA1_00156
17 c.5066T>G 5185T>G p.M1689R 0.9889 4 - Likely pathogenic Easton et al. 2007 Tavtigian et al. 2008 0.66 0.01 0.00 0.66 1 - 30.9 1.48 - 45.732 - BRCA1_00041
17 c.5068A>C 5187A>C p.K1690Q 0.012219959 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.4 - - - 0.4 - BRCA1_00534
17 c.5071A>G 5190A>G p.T1691A - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 0.64538081 1.033092037 - 0.666737775 - BRCA1_00692
17 c.5072C>A 5191C>A p.T1691K - - Parsons et al 2019 - 0.81 0.04 0.02 0.81 - 1.264 - - - 1.264 - BRCA1_00693
17 c.5072C>T 5191C>T p.T1691R - - Parsons et al 2019 - 0.81 0.34 0.02 0.81 - - 0.810565152 1.340451569 - 1.08652333 - BRCA1_00432
17 c.5074G>C 5193G>C p.D1692H 0.996158521 5 - Pathogenic Parsons et al 2019 - 0.81 0.97 0.02 0.97 1.911397392 3.73 0.900967798 1.248562982 - 8.020095591 - BRCA1_00717
17 c.5074G>T 5193G>T p.D1692N 0.941360096 3 - Uncertain Parsons et al 2019 - 0.81 0.97 0.02 0.97 - - 0.480588126 1.033092037 - 0.496491767 - BRCA1_00441
17 c.5074+1G>A IVS17+1G>A - 1.000 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 - 0.97 0.00 0.97 1 1 160.57 1.22 - 195.90 - BRCA1_00122
17 c.5074+1G>T IVS17+1G>T - 0.998991527 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 13.9234 1.691648 1.179708109 1.102597599 - 30.63704728 - BRCA1_00438
17 c.5074+2T>C IVS17+2T>C - 0.999563022 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 2.4319 3.73 7.307473789 1.067279157 - 70.74566595 - BRCA1_00536
17 c.5074+3A>G IVS17+3A>G - - - Parsons et al 2019 - - 0.97 0.02 0.97 1.7629 - - - - 1.7629 - BRCA1_00439
17 c.5074+6C>G IVS17+6C>G - 5.98132E-08 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 0.004977646 0.000244592 0.700353645 1.68354305 - 0.00000143552 - BRCA1_00715
17 c.5074+23A>G IVS17+23A>G - 0.003984064 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.196 - - - 0.196 - BRCA1_00535
18 c.5075-9A>T IVS17-9A>T - 0.000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Vallee et al. 2016 - 0.04 0.00 0.04 1 - 1.23 3.72E-03 - 4.57E-03 - BRCA1_00141
18 c.5076T>G 5195T>G p.D1692E 0.887756117 3 - Uncertain Parsons et al 2019 - 0.66 0.34 0.02 0.66 - - 3.817578216 1.067279157 - 4.074421662 - BRCA1_00537
18 c.5078_5080del 5197del3 p.A1693del 0.238379316 3 - Uncertain Parsons et al 2019 - - - 0.02 0.03 3.6431 9.9856 0.269275008 1.033092037 - 10.11999548 - BRCA1_00224
18 c.5085T>A 5204T>A p.F1695L - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.779710926 1.033092037 - 0.805513149 - BRCA1_00538
18 c.5089T>C 5208T>C p.C1697R 0.99986659 5 - Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 730.6336757 2.4061544 - - - 1758.017434 - BRCA1_00539
18 c.5095C>T 5214C>T p.R1699W 1.0000 5 - Definitely pathogenic Easton et al. 2007 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 1 - 21877.62 1.82 - 3.98173E+4 - BRCA1_00046
18 c.5096G>A 5215G>A p.R1699Q 0.8853 3 - Uncertain Goldgar et al. 2004 Tavtigian et al. 2008 0.66 0.01 0.00 0.66 2.84 - - 1.4 - 3.976 This variant is considered pathogenic with reduced penetrance. Additional families were collected for relative risk estimates (Moghadasi et al 2017) but the standard co-segregation analysis has not been updated BRCA1_00002
18 c.5096G>T 5215G>T p.R1699Q - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.731999383 1.033092037 - 0.756222734 - BRCA1_00541
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
18 c.5099C>T 5218C>T p.T1700R - - Parsons et al 2019 - 0.81 - 0.02 0.81 1.3208 0.49 - - - 0.647192 - BRCA1_00542
18 c.5112T>A 5231T>A p.F1704L - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.950879643 1.1390848 - 1.083132548 - BRCA1_00544
18 c.5114T>C 5233T>C p.L1705P 0.342267729 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 3.8153 4.41 - - - 16.825473 - BRCA1_00545
18 c.5117G>A 5236G>A p.G1706E 0.9996 5 - Definitely pathogenic Easton et al. 2007 Tavtigian et al. 2008 0.81 0.02 0.00 0.81 1.95 - 223.87 1.35 - 589.338 - BRCA1_00048
18 c.5117G>C 5236G>C p.G1706A 0.00005 1 - Not pathogenic or of no clinical significance Lovelock et al. 2006 Tavtigian et al. 2008 0.66 0.01 0.00 0.66 0.00044 0.058 - - - 2.55200E-5 - BRCA1_00109
18 c.5117G>T 5236G>T p.G1706E - - Parsons et al 2019 - 0.81 - 0.02 0.81 8.8767 0.16 - - - 1.420272 - BRCA1_00546
18 c.5123C>A 5242C>A p.A1708E 1.0000 5 - Definitely pathogenic Easton et al. 2007 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 1 - 1.66E+11 12.59 - 2.08994E+12 - BRCA1_00045
18 c.5123C>T 5242C>T p.A1708V 0.7498 3 - Uncertain Chenevix-Trench et al. 2006 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 0.227 2.95 - 1.05 - 0.70313 - BRCA1_00030
18 c.5129G>A 5248G>A p.G1710E - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.64 - - - 0.64 - BRCA1_00547
18 c.5143A>C 5262A>C p.S1715R 0.9948 5 - Definitely pathogenic Easton et al. 2007 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 1 - 36.31 1.23 - 44.6613 - BRCA1_00051
18 c.5143A>T 5262A>T p.S1715G 0.928747653 3 - Uncertain Parsons et al 2019 - 0.81 - 0.02 0.81 - - 2.959566636 1.033092037 - 3.057504725 - BRCA1_00548
18 c.5144G>A 5263G>A p.S1715N 0.999493668 5 - Pathogenic Parsons et al 2019 - 0.66 - 0.02 0.66 57.86 3.73 3.631450851 1.297514181 - 1016.903038 - BRCA1_00694
18 c.5152+1G>T IVS18+1G>T - 1.000 5 - Definitely pathogenic Spurdle et al. 2008 Vallee et al. 2016 - 0.97 0.00 0.97 12.87 7.56E+03 - 1.15 - 1.12E+05 - BRCA1_00142
18 c.5152+2dup IVS18+2insT - - - Parsons et al 2019 - - - 0.02 0.97 - - 1.304022966 1.033092037 - 1.347175743 - BRCA1_00444
18 c.5152+7A>G IVS18+7A>G - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.893504299 1.033092037 - 0.923072177 - BRCA1_00549
18 c.5153-26A>G IVS18-26A>G - - - Parsons et al 2019 - - - 0.02 0.02 0.385044263 3.73 - - - 1.436215101 - BRCA1_00550
18 c.5153-5T>C IVS18-5T>C - 0.016420032 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.387825666 1.033092037 - 0.400659608 - BRCA1_00552
18 c.5153-3T>C IVS18-3T>C - 0.006964376 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.011951607 1.1390848 - 0.013613894 - BRCA1_00551
18 c.5153-1G>A IVS18-1G>A - 0.991890533 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 3.111622389 1.215721465 - 3.78286613 - BRCA1_00449
19 c.5153-13A>G IVS18-13A>G - 0.000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Vallee et al. 2016 - 0.04 0.00 0.04 0.10 - 0.41 3.80E-03 - 1.48E-04 - BRCA1_00143
19 c.5153-6C>A IVS18-6C>A - 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 - 7.24E-03 3.55E-03 - 2.57E-05 - BRCA1_00145
19 c.5153-1G>C IVS18-1G>C - 0.999 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 - 0.97 0.00 0.97 1 - 20.42 1.15 - 23.44 - BRCA1_00144
19 c.5153G>C 5272G>C p.W1718S 0.934056846 3 - Uncertain Parsons et al 2019 - 0.81 0.34 0.02 0.81 - - 3.216126773 1.033092037 - 3.32255496 - BRCA1_00695
19 c.5158A>G 5277A>G p.T1720A 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 0.00001 - 5.89E-07 3.09 - 1.82001E-11 - BRCA1_00093
19 c.5165C>A 5284C>A p.S1722Y - - Parsons et al 2019 - 0.29 - 0.02 0.29 4.84239096 0.16 - - - 0.774782554 - BRCA1_00553
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
19 c.5185C>G 5304C>G p.L1729V 0.056665864 3 - Uncertain Parsons et al 2019 - 0.29 - 0.02 0.3 - - 0.135673096 1.033092037 - 0.140162795 - BRCA1_00554
19 c.5189A>G 5308A>G p.N1730S 0.005656399 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.64 0.269275008 1.067279157 - 0.183930626 - BRCA1_00555
19 c.5189A>T 5308A>T p.N1730S 0.004056224 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.127467244 1.033092037 - 0.131685395 - BRCA1_00556
19 c.5193+1G>A IVS19+1G>A - 0.98561825 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.2692 1.67 - - - 2.119564 - BRCA1_00557
19 c.5194-30T>C IVS19-30T>C - - - Parsons et al 2019 - - - 0.02 0.02 - 0.57 - - - 0.57 - BRCA1_00560
19 c.5194-18G>T IVS19-18G>T - 0.014399979 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.279189646 1.255952165 - 0.35064884 - BRCA1_00559
19 c.5194-13T>C IVS19-13T>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 - 1.36 - - - 1.36 - BRCA1_00558
19 c.5194-12G>A IVS19-12G>A - 0.995 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 0.02 0.34 0.00 0.34 0.0087 1 33,113 1.26 - 362.99 - BRCA1_00123
20 c.5198A>G 5317A>G p.D1733G 0.00057653 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.010724073 1.739254919 - 0.018651896 - BRCA1_00561
20 c.5207T>C 5326T>C p.V1736A 0.999 5 - Definitely pathogenic Domchek et al. 2013 Vallee et al. 2016 0.81 0.02 0.00 0.81 234 - - - - 234 - BRCA1_00094
20 c.5207T>G 5326T>G p.V1736G 0.968449731 4 - Likely Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 - - 6.530185999 1.102597599 - 7.200167403 - BRCA1_00562
20 c.5212G>A 5331G>A p.G1738R 0.9980 5 - Definitely pathogenic Easton et al. 2007 Tavtigian et al. 2008 0.81 0.01 0.00 0.81 1 - 87.1 1.32 - 114.972 - BRCA1_00043
20 c.5213G>A 5332G>A p.G1738E 0.981287815 4 - Likely Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 1.176157506 - 8.887506689 1.176779436 - 12.30100219 - BRCA1_00564
20 c.5213_5215del 5331del3 - - - Parsons et al 2019 - - - 0.02 0.81 - - 1.189189682 1.176779436 - 1.399413963 - BRCA1_00563
20 c.5216A>G 5335A>G p.D1739G - - Parsons et al 2019 - 0.81 - 0.02 0.81 1.614087 - - - - 1.614087 - BRCA1_00565
20 c.5216A>T 5335A>T p.D1739G 0.966267209 4 - Likely Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 0.8205 - 7.926764441 1.033092037 - 6.719137863 Likely Pathogenic* BRCA1_00566
20 c.5217T>G 5336T>G p.D1739E 0.883952167 3 - Uncertain Parsons et al 2019 - 0.66 - 0.02 0.66 - - 3.798286308 1.033092037 - 3.92397934 - BRCA1_00567
20 c.5243G>A 5362G>A p.G1748D 0.979967531 4 - Likely Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 3.8 3.16 0.924987999 1.033092037 - 11.47481761 - BRCA1_00568
20 c.5252G>A 5371G>A p.R1751Q 0.00021 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.03 0.01 0.00 0.03 2 - 0.00219 1.55 - 0.00679 - BRCA1_00095
20 c.5252G>C 5371G>C p.R1751P 0.868970205 3 - Uncertain Parsons et al 2019 - 0.66 - 0.02 0.66 - - 3.09850901 1.102597599 - 3.416408595 - BRCA1_00569
20 c.5254G>A 5373G>A p.A1752T - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.1148 - - - - 1.1148 - BRCA1_00570
20 c.5258G>C 5377G>C p.R1753T 0.948012744 3 - Uncertain Parsons et al 2019 - 0.81 - 0.02 0.81 - - 4.007816569 1.067279157 - 4.277459091 - BRCA1_00571
20 c.5276A>G 5395A>G p.K1759R - - Parsons et al 2019 - 0.03 0.34 0.02 0.34 - - 0.718851415 1.033092037 - 0.742639673 - BRCA1_00572
20 c.5277+1G>A IVS20+1G>A - 1.000 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 - 0.97 0.00 0.97 1 - 1.29E+11 3.31 - 4.27E+11 - BRCA1_00146
20 c.5277+1_5277+6del IVS20+1del6 - 0.998021647 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.97 - - 15.10242302 1.033092037 - 15.60219297 - BRCA1_00573
501 - 600
[<-] 1 2 3 4 5 6 7 [->]

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