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LOVD - Variant listings for BRCA1

662 entries
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Exon Hide Exon column Descending
Ascending
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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11 c.4096+7G>A IVS11+7G>A - 0.082568807 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - 4.41 - - - 4.41 - BRCA1_00437
11 c.4096+27C>T IVS11+27C>T - 0.481283422 3 - Uncertain Parsons et al 2019 - - - 0.02 0.03 - - - - - 30 - BRCA1_00436
11 c.4097-164T>C IVS11-164T>C - 0.008097166 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.4 - - - 0.4 - BRCA1_00440
11 c.4097-10G>A IVS11-10G>A - 0.000573213 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.0113225 1.215721465 - 0.013765006 - BRCA1_00681
11 c.4097-2A>G IVS12-2A>G - 0.992684781 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 0.4203 9.9856 - - - 4.19694768 - BRCA1_00342
12 c.4097-15T>C
  (Reported 2 times)		 IVS11-15T>C - 0.131 3 - Uncertain Thomassen et al. 2012 Vallee et al. 2016 - 0.04 0.00 0.04 3.44 - - 1.05 - 3.61 - BRCA1_00149
12 c.4097-11T>C IVS11-11T>C - 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 - 0.43 3.55E-03 - 1.51E-03 - BRCA1_00137
12 c.4097-1G>A IVS11-1G>A - 0.999 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 - 0.97 0.00 0.97 1 - 22.91 1.02 - 23.44 - BRCA1_00136
12 c.4103C>T 4222C>T p.A1368G 0.001629992 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.08 - - - 0.08 - BRCA1_00442
12 c.4111G>C 4230G>C p.G1371R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.455675089 1.102597599 - 1.605023858 - BRCA1_00443
12 c.4115G>A 4234G>A p.C1372Y - - Parsons et al 2019 - 0.02 - 0.02 0.3 - - 0.443076314 1.1390848 - 0.504701494 - BRCA1_00683
12 c.4127C>G 4246C>G p.T1376R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.452648414 1.176779436 - 0.532667346 - BRCA1_00445
12 c.4131C>A 4250C>A p.S1377R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.779710926 1.033092037 - 0.805513149 - BRCA1_00446
12 c.4132G>A 4251G>A p.V1378I 2.60554E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0443 0.041556378 0.425576634 1.629615745 - 0.001276746 - BRCA1_00447
12 c.4184A>G 4303A>G p.Q1395R 0.015735369 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 0.34 0.02 0.34 - - 0.027244197 1.1390848 - 0.03103345 - BRCA1_00448
12 c.4184_4185+2del 4303_4304+2del - 0.986 4 - Likely pathogenic Thomassen et al. 2012 Vallee et al. 2016 - 0.97 0.00 0.97 2.09 - - 1.05 - 2.19 - BRCA1_00150
12 c.4185G>A 4304G>A p.Q1395Q 0.999943463 5 - Pathogenic Parsons et al 2019 - 0.02 0.97 0.02 0.97 39.31669401 13.9129 - - - 547.0092321 - BRCA1_00361
12 c.4185+1G>T IVS12+1G>T - 0.989476056 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 2.637298196 1.102597599 - 2.907878658 - BRCA1_00451
12 c.4185+2_4185+22delinsA IVS12+2del21insA - 0.999913731 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.97 0.325512345 30.64568 28.61203126 1.255952165 - 358.4747047 - BRCA1_00452
12 c.4185_4185+3del 4304del4 - 0.986076369 4 - Likely Pathogenic Parsons et al 2019 - - - 0.02 0.97 2.09 - - 1.048 - 2.19032 - BRCA1_00354
12 c.4185+5_4185+7del IVS12+5del3 - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.488988382 1.033092037 - 0.505170003 - BRCA1_00454
12 c.4185+9C>T IVS12+9C>T - 0.001394135 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 0.2012 0.34 - - - 0.068408 - BRCA1_00684
12 c.4185+10G>C IVS12+10G>C - 0.000128868 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.51 0.336129918 0.036840044 - 0.006315351 - BRCA1_00450
12 c.4185+30G>A IVS12+30G>A - 0.050387597 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - 2.6 - - - 2.6 - BRCA1_00453
12 c.4186-19C>G IVS12-19C>G - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 0.893504299 1.033092037 - 0.923072177 - BRCA1_00459
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
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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
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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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12 c.4186-19C>T IVS12-19C>T - 0.00763887 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.173098209 1.067279157 - 0.184744111 - BRCA1_00460
12 c.4186-11C>T IVS12-11C>T - 0.162101679 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.363514885 1.033092037 - 0.375544333 - BRCA1_00458
12 c.4186-10G>A IVS12-10G>A - 0.015233194 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.02469952 1.215721465 - 0.030027737 - BRCA1_00685
13 c.4199T>C 4318T>C p.M1400T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.902722674 1.033092037 - 1.965687644 - BRCA1_00461
13 c.4204C>T 4323C>T p.H1402Y 0.00012 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 1.95 - 0.851 0.00355 - 0.00589 - BRCA1_00085
13 c.4205A>G 4324A>G p.H1402R 0.057042215 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.869202485 1.033092037 - 2.96415024 - BRCA1_00462
13 c.4211T>C 4330T>C p.L1404P 0.095593267 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 4.852679085 1.067279157 - 5.179163244 - BRCA1_00463
13 c.4213A>G 4332A>G p.I1405V 0.001564304 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.3 - 0.148 0.383841549 0.034517721 1.864327003 0.003655762 - BRCA1_00464
13 c.4255G>C 4374G>C p.E1419Q 0.00073 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.13 0.00 0.13 1 - 0.00427 1.15 - 0.00491 - BRCA1_00086
13 c.4261C>T 4380C>T p.H1421D - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.1496 3.191474402 1.1390848 - 0.543849853 - BRCA1_00465
13 c.4262A>G 4381A>G p.H1421R 0.005074123 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.212359312 1.176779436 - 0.249900071 - BRCA1_00466
13 c.4288C>T 4407C>T p.P1430A 0.00532968 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.254143535 1.033092037 - 0.262553663 - BRCA1_00467
13 c.4327C>G 4446C>G p.R1443G 2.2324E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.05045792 0.16 0.007065452 1.917698298 - 0.000109388 - BRCA1_00469
13 c.4328G>A 4447G>A p.R1443Q - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.187469041 1.033092037 - 1.226764811 - BRCA1_00470
13 c.4342A>G 4461A>G p.S1448G - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.6395 3.73 0.225883846 1.176779436 - 1.625550617 - BRCA1_00471
13 c.4357+1G>A IVS13+1G>A - 1.000 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 - 0.97 0.00 0.97 1 - 1.23E+06 3.98 - 4.90E+06 - BRCA1_00138
13 c.4357+1G>T IVS13+1G>T - 0.993968273 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 0.67480032 - 6.630542421 1.1390848 - 5.096598175 - BRCA1_00363
13 c.4357+6T>C IVS13+6T>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 1.687900947 1.033092037 - 1.743757028 - BRCA1_00371
13 c.4358-2del IVS13-2delA - - - Parsons et al 2019 - - - 0.02 0.34 - - - 1.034 - 1.034 - BRCA1_00687
14 c.4402A>C 4521A>C p.N1468H 0.00006 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 - 0.912 0.00324 - 0.00295 - BRCA1_00087
14 c.4410A>T 4529A>T p.E1470E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.586165284 1.430636021 - 0.838589169 - BRCA1_00477
14 c.4454C>T 4573C>T p.T1485S 0.105707369 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 5.606381896 1.033092037 - 5.791908494 - BRCA1_00479
14 c.4479_4484+2dup
  (Reported 2 times)		 4598_4603+2dup - 0.988 4 - Likely pathogenic Whiley et al., 2011 Vallee et al. 2016 - 0.97 0.00 0.97 0.95 2.58 - - - 2.45 - BRCA1_00126
14 c.4484G>A 4603G>A p.R1495K 0.164812191 3 - Uncertain Parsons et al 2019 - 0.02 0.34 0.02 0.34 - 0.4 0.897288675 1.067279157 - 0.383063 - BRCA1_00223
14 c.4484G>C 4603G>C p.R1495T 0.993039479 5 - Pathogenic Parsons et al 2019 - 0.02 0.34 0.02 0.34 27.7342 9.9856 - - - 276.9426275 - BRCA1_00271
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
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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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14 c.4484G>T 4603G>T p.R1495M 1.00000 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 0.02 0.34 0.00 0.34 1 - 1.91E+05 6.46 - 1.23E+06 - BRCA1_00154
14 c.4484+1del IVS14+1del - 0.996657082 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.97 0.32770636 28.13744896 - - - 9.220820978 - BRCA1_00482
14 c.4484+10A>G IVS14+10A>G - 0.00135712 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.064456265 1.033092037 - 0.066589254 - BRCA1_00481
14 c.4485-18T>A IVS14-18T>A - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.613622932 1.033092037 - 1.667021002 - BRCA1_00485
14 c.4485-8C>T IVS14-8C>T - 0.013290971 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 0.3592 0.9 - - - 0.32328 - BRCA1_00488
14 c.4485-2A>G IVS14-2A>G - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 0.640829534 1.297514181 - 0.831485408 - BRCA1_00487
14 c.4485-1G>T IVS14-1G>T - 0.99746182 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 11.76479319 1.033092037 - 12.15411416 - BRCA1_00486
15 c.4520G>C 4639G>C p.R1507T 0.000442268 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.21 0.090635439 1.1390848 - 0.021680705 - BRCA1_00489
15 c.4534A>T 4653A>T p.S1512G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.914806725 1.033092037 - 0.945079543 - BRCA1_00490
15 c.4535G>T 4654G>T p.S1512I 0.00000 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - - <1e-10 - <1e-10 - BRCA1_00016
15 c.4549C>T 4668C>T p.L1517V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.779710926 1.067279157 - 0.83216922 - BRCA1_00491
15 c.4565A>G 4684A>G p.Y1522C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.27958483 1.033092037 - 1.321928898 - BRCA1_00493
15 c.4571C>T 4690C>T p.S1524C - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.1815 0.49 - - - 0.578935 - BRCA1_00494
15 c.4585A>G 4704A>G p.I1529V 0.007617415 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.289876122 1.297514181 - 0.37611838 - BRCA1_00495
15 c.4600G>A 4719G>A p.V1534M 0.00010 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 0.0086 0.139 - 4.02 - 0.00481 - BRCA1_00029
15 c.4625C>G 4744C>G p.S1542C - - Parsons et al 2019 - 0.02 - 0.02 0.02 4.0156 0.49 - - - 1.967644 - BRCA1_00496
15 c.4631C>T 4750C>T p.P1544R 0.005294773 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.21 1.202238751 1.033092037 - 0.260824889 - BRCA1_00497
15 c.4636G>A 4755G>A p.D1546N 0.00011 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - - 5.60E-03 - 0.0056 - BRCA1_00022
15 c.4636G>T 4755G>T p.D1546Y 0.00002 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 - 0.275 0.00339 - 0.00093 - BRCA1_00088
15 c.4649C>T 4768C>T p.T1550R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.059460886 1.255952165 - 1.330632194 - BRCA1_00498
15 c.4657T>A 4776T>A p.L1553V 0.009860517 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.42839395 1.1390848 - 0.487977036 - BRCA1_00499
15 c.4675G>A 4794G>A p.E1559K 0.996070077 5 - Pathogenic Parsons et al 2019 - 0.02 0.97 0.02 0.97 1.791383082 - 3.484125209 1.255952165 - 7.838903556 - BRCA1_00404
15 c.4675+1G>A IVS15+1G>A - 1.000 5 - Definitely pathogenic Easton et al. 2007 Vallee et al. 2016 - 0.97 0.00 0.97 1 - 128.82 1.55 - 199.67 - BRCA1_00127
15 c.4675+3A>T IVS15+3A>T - 0.992883383 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 4.176717726 1.033092037 - 4.314933824 - BRCA1_00269
15 c.4676-16C>G IVS15-16C>G - 0.016829401 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.372592396 1.102597599 - 0.410819482 - BRCA1_00502
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
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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
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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
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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
Ascending
15 c.4676-11A>G IVS15-11A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.073391647 1.067279157 - 1.145608533 - BRCA1_00501
15 c.4676-10T>A IVS15-10T>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.925839811 1.067279157 - 0.988129533 - BRCA1_00500
15 c.4676-8C>G IVS15-8C>G - 0.134851272 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.274417782 1.102597599 - 0.302572387 - BRCA1_00505
15 c.4676-2A>G IVS15-2A>G - 0.987072432 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 2.285823557 1.033092037 - 2.361466115 - BRCA1_00504
15 c.4676-1G>A IVS15-1G>A - 0.999912467 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 3.7504 - 32.31331637 2.915267271 - 353.2950069 - BRCA1_00503
16 c.4676-7C>T IVS15-7C>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 0.01 - 0.58 1.32 - 8.13E-03 - BRCA1_00139
16 c.4691T>C 4810T>C p.L1564P 0.00007 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - - 3.30E-03 - 0.0033 - BRCA1_00023
16 c.4702A>G 4821A>G p.I1568V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.537780316 1.067279157 - 1.64124088 - BRCA1_00507
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
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
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
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
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
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
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
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
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
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
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
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
16 c.4837A>G 4956A>G p.S1613G 0.00000 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - - <1e-10 - <1e-10 - BRCA1_00012
16 c.4840C>T 4959C>T p.P1614S 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 0.0955 - 0.309 7.59E-08 - 2.23977E-9 - BRCA1_00089
16 c.4868C>G 4987C>G p.A1623G 0.9986 5 - Definitely pathogenic Walker et al., 2010 Vallee et al. 2016 0.02 0.64 0.00 0.64 27.72 1.23 10.47 1.09 - 389.1 - BRCA1_00124
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
16 c.4883T>C 5002T>C p.M1628T 0.00000 1 - Not pathogenic or of no clinical significance Tavtigian et al. 2006 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - - - 1.60E-04 - 0.00016 - BRCA1_00013
401 - 500
[<-] 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.

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