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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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- 16 c.4726G>C 4845G>C p.E1576Q 0.009453202 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.452648414 1.033092037 - 0.467627473 - BRCA1_00508 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4729T>C 4848T>C p.S1577P - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.2234 - 0.501222026 1.297514181 - 0.795629244 - BRCA1_00509 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4730C>A 4849C>A p.S1577Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.64 0.914806725 1.067279157 - 0.624866656 - BRCA1_00510 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4733A>G 4852A>G p.D1578G 0.010070867 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.482525023 1.033092037 - 0.498492759 - BRCA1_00511 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4739C>T 4858C>T p.S1580C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.619189858 1.067279157 - 0.66084843 - BRCA1_00512 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4765C>T 4884C>T p.R1589G 0.002439128 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.21 0.469286282 1.215721465 - 0.119809495 - BRCA1_00513 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4766G>A 4885G>A p.R1589H 0.006373364 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.64 0.417317436 1.176779436 - 0.314297969 - BRCA1_00688 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4771G>A 4890G>A p.G1591S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.492108355 1.033092037 - 0.508393223 - BRCA1_00514 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4776C>A 4895C>A p.N1592K 0.004058999 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.193304679 1.033092037 - 0.199701524 - BRCA1_00515 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4811A>G 4930A>G p.Q1604R 0.050468364 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.440213563 1.067279157 - 2.604389075 - BRCA1_00517 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4814T>C 4933T>C p.L1605S 0.005305792 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.252998366 1.033092037 - 0.261370597 - BRCA1_00518 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4816A>G 4935A>G p.K1606E 0.000265668 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.081900008 - 0.114809233 1.384809842 - 0.013021197 - BRCA1_00519 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4882A>G 5001A>G p.M1628V 0.006344774 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.59 0.370676733 1.430636021 - 0.312879057 - BRCA1_00689 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4957G>A 5076G>A p.V1653M - - Parsons et al 2019 - 0.03 - 0.02 0.03 0.9973 - - - - 0.9973 - BRCA1_00526 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4963T>C 5082T>C p.S1655P - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.64 - - - 0.64 - BRCA1_00527 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 16 c.4986+5G>A IVS16+5G>A - - - Parsons et al 2019 - - 0.97 0.02 0.97 0.9633 - - - - 0.9633 - BRCA1_00718 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
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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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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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- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 17 c.5062_5064del 5181del3 - 0.998075931 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.66 16.93000191 - 13.41299635 1.176779436 - 267.2254914 - BRCA1_00691 - United States:Salt Lake City DNA SEQ - 1
?/? 17 c.5062_5064del 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 17 c.5074+3A>G IVS17+3A>G - - - Parsons et al 2019 - - 0.97 0.02 0.97 1.7629 - - - - 1.7629 - BRCA1_00439 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
Path. Hide Path. 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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Technique Hide Technique column Descending
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# Reported Hide # Reported column Descending
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- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 18 c.5129G>A 5248G>A p.G1710E - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.64 - - - 0.64 - BRCA1_00547 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 18 c.5152+2dup IVS18+2insT - - - Parsons et al 2019 - - - 0.02 0.97 - - 1.304022966 1.033092037 - 1.347175743 - BRCA1_00444 - United States:Salt Lake City DNA SEQ - 1
- 18 c.5152+7A>G IVS18+7A>G - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.893504299 1.033092037 - 0.923072177 - BRCA1_00549 - United States:Salt Lake City DNA SEQ - 1
- 18 c.5153-26A>G IVS18-26A>G - - - Parsons et al 2019 - - - 0.02 0.02 0.385044263 3.73 - - - 1.436215101 - BRCA1_00550 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 19 c.5194-30T>C IVS19-30T>C - - - Parsons et al 2019 - - - 0.02 0.02 - 0.57 - - - 0.57 - BRCA1_00560 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 19 c.5194-13T>C IVS19-13T>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 - 1.36 - - - 1.36 - BRCA1_00558 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
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Protein change Hide Protein change 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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Comments Hide Comments column Descending
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DB-ID Hide DB-ID column Descending
Ascending
Disease Hide Disease column Descending
Ascending
Reference Hide Reference column Descending
Ascending
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
- 20 c.5213_5215del 5331del3 - - - Parsons et al 2019 - - - 0.02 0.81 - - 1.189189682 1.176779436 - 1.399413963 - BRCA1_00563 - United States:Salt Lake City DNA SEQ - 1
- 20 c.5216A>G 5335A>G p.D1739G - - Parsons et al 2019 - 0.81 - 0.02 0.81 1.614087 - - - - 1.614087 - BRCA1_00565 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 20 c.5254G>A 5373G>A p.A1752T - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.1148 - - - - 1.1148 - BRCA1_00570 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 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 - United States:Salt Lake City DNA SEQ - 1
- 20 c.5277+48_5277+59dup IVS20+48dup12 - 1.17503E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 0.392983377 0.00146513 - - - 0.000575772 - BRCA1_00696 - United States:Salt Lake City DNA SEQ - 1
- 20 c.5277+78G>A IVS20+78G>A - 7.77823E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 0.010878602 0.035035392 - - - 0.000381136 - BRCA1_00697 - United States:Salt Lake City DNA SEQ - 1
- 20 c.5278-18C>G IVS20-18C>G - 0.011642967 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.26490064 1.067279157 - 0.282722932 - BRCA1_00574 - United States:Salt Lake City DNA SEQ - 1
- 20 c.5278-1G>A IVS20-1G>A - 0.697742959 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 1.003853623 3.73 1.112556859 1.075678821 - 4.481094016 - BRCA1_00455 - United States:Salt Lake City DNA SEQ - 1
- 20 c.5278-1G>C IVS20-1G>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.753012703 1.033092037 - 0.777931428 - BRCA1_00456 - United States:Salt Lake City DNA SEQ - 1
?/? 21 c.5278-14C>G IVS20-14C>G - 0.009 2 - Likely not pathogenic or of little clinical significance Whiley et al., 2011 Vallee et al. 2016 - 0.04 0.00 0.04 - - 0.14 1.58 - 0.22 - BRCA1_00128 - United States:Salt Lake City DNA SEQ - 1
- 20 c.5278-14C>G IVS20-14C>G - 7.92665E-10 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 0.10493265 0.0374 0.140767195 1.577415842 2.18309E-05 0.000000019024 - BRCA1_00698 - United States:Salt Lake City DNA SEQ - 1
- 21 c.5282T>C 5401T>C p.F1761S 0.934773244 3 - Uncertain Parsons et al 2019 - 0.66 - 0.02 0.66 - - 6.917313336 1.067279157 - 7.382704348 - BRCA1_00575 - United States:Salt Lake City DNA SEQ - 1
- 21 c.5297T>A 5416T>A p.I1766S 0.920672311 3 - Uncertain Parsons et al 2019 - 0.66 - 0.02 0.66 1.6029 3.73 - - - 5.978817 - BRCA1_00576 - United States:Salt Lake City DNA SEQ - 1
- 21 c.5312C>G 5431C>G p.P1771R 0.047245847 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.117517927 1.033092037 - 0.121406835 - BRCA1_00577 - United States:Salt Lake City DNA SEQ - 1
- 21 c.5317A>T 5436A>T p.T1773A 0.200976669 3 - Uncertain Parsons et al 2019 - 0.66 - 0.02 0.66 - - 0.117517927 1.102597599 - 0.129574984 - BRCA1_00578 - United States:Salt Lake City DNA SEQ - 1
- 21 c.5327C>A 5446C>A p.P1776H 0.058892426 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 1.937 0.64 1.529266012 1.067279157 - 2.023348349 - BRCA1_00579 - United States:Salt Lake City DNA SEQ - 1
?/? 21 c.5327C>A 5446C>A p.P1776H 0.0311 2 - Likely not pathogenic or of little clinical significance Spearman et al. 2008 Tavtigian et al. 2008 0.03 0.01 0.00 0.03 - 0.183 5.68 - - 1.03944 - BRCA1_00101 - United States:Salt Lake City DNA SEQ - 1
- 21 c.5332G>A 5451G>A p.D1778N 0.068929085 3 - Uncertain Parsons et al 2019 - 0.03 0.34 0.02 0.34 1.0014 0.4 0.325386964 1.102597599 - 0.143709266 - BRCA1_00241 - United States:Salt Lake City DNA SEQ - 1
- 21 c.5332+1G>C IVS21+1G>C - 0.904106415 3 - Uncertain Parsons et al 2019 - - 0.97 0.02 0.97 - - 0.282254256 1.033092037 - 0.291594625 - BRCA1_00580 - United States:Salt Lake City DNA SEQ - 1
401 - 500
[<-] 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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