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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8 c.535T>C 654T>C p.Y179H 0.005959375 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.29376 - - - 0.29376 - BRCA1_00584
8 c.536A>G 655A>G p.Y179C 0.00000 1 - Not pathogenic or of no clinical significance Spurdle et al. 2008 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 0.0007 0.143 - 8.49E-07 - 8.49849E-11 - BRCA1_00031
8 c.547+1G>T IVS8+1G>T - 0.99058587 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.9487 1.67 - - - 3.254329 - BRCA1_00601
8 c.548-16G>A IVS8-16G>A - 0.220879692 3 - Uncertain Parsons et al 2019 - - 0.5 0.02 0.5 - - 0.274417782 1.033092037 - 0.283498825 - BRCA1_00604
8 c.548-13G>T IVS8-13G>T - 0.011738473 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.275938267 1.033092037 - 0.285069626 - BRCA1_00603
8 c.548-9del IVS8-9delA - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.907130133 1.297514181 - 1.177014211 - BRCA1_00606
8 c.548-3del IVS8-3delT - - - Parsons et al 2019 - - - 0.02 0.5 - - 0.594053557 1.034 - 0.614251378 - BRCA1_00702
9 c.548-17G>T IVS8-17G>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 - 3.80E-05 0.02 - 9.12E-07 - BRCA1_00135
9 c.551C>T 670C>T p.S184C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.64 - - - 0.64 - BRCA1_00611
9 c.557C>A 676C>A p.S186Y 0.00000 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Tavtigian et al. 2008 0.02 0.13 0.00 0.13 0.00501 - 0.00027 0.00029 - 3.92283E-10 - BRCA1_00057
9 c.571G>A 690G>A p.V191I 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 - 0.0138 0.00589 - 7.76243E-6 - BRCA1_00058
9 c.572T>A 691T>A p.V191G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.648011368 1.102597599 - 0.714495779 - BRCA1_00620
9 c.593+3G>A IVS9+3G>A - 0.013077573 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.279189646 1.1390848 - 0.318020682 - BRCA1_00703
9 c.593+4A>G IVS9+4A>G - 0.001 2 - Likely not pathogenic or of little clinical significance Whiley et al., 2011 Vallee et al. 2016 - 0.04 0.00 0.04 0.62 0.18 0.2 1.1 - 0.025 - BRCA1_00125
9 c.593+9A>G IVS9+9A>G - 0.002178433 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.093914219 1.1390848 - 0.10697626 - BRCA1_00624
9 c.593+10A>G IVS9+10A>G - 0.009418329 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.450962699 1.033092037 - 0.465885974 - BRCA1_00621
9 c.593+16C>G IVS9+16C>G - 0.07773386 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - 4.13 - - - 4.13 - BRCA1_00622
9 c.594-60del IVS9-62delT - - - Parsons et al 2019 - - - 0.02 0.02 1.1841 - - - - 1.1841 - BRCA1_00627
9 c.594-20A>G IVS9-20A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.641810162 1.102597599 - 0.707658344 - BRCA1_00625
9 c.594-4A>G IVS9-4A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.237417811 1.024615386 - 1.267877327 - BRCA1_00704
10 c.601G>A 720G>A p.D201N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.652827954 1.033092037 - 0.674431361 - BRCA1_00628
10 c.668A>G 787A>G p.K223R - - Parsons et al 2019 - 0.02 0.34 0.02 0.34 0.6738 1.8277 - - - 1.23150426 - BRCA1_00716
10 c.670+8C>T IVS10+8C>T - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.652827954 1.033092037 - 0.674431361 - BRCA1_00476
10 c.670+16G>A IVS10+16G>A - 1.35079E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 0.0001043 0.6346 - - - 0.0000661888 - BRCA1_00474
10 c.671-15T>A IVS10-15T>A - 0.146226682 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.321817793 1.033092037 - 0.3324674 - BRCA1_00633
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
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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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10 c.671-12del IVS10-12delG - - - Parsons et al 2019 - - - 0.02 0.34 - - 0.482525023 1.067279157 - 0.5149889 - BRCA1_00632
10 c.671-2A>G IVS10-2A>G - 0.198606647 3 - Uncertain Parsons et al 2019 - - 0.97 0.02 0.97 0.0112 0.684352 - - - 0.007664742 - BRCA1_00635
10 c.671-1G>T IVS10-1G>T - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 1.27958483 1.033092037 - 1.321928898 - BRCA1_00634
11 c.692C>T 811C>T p.T231R 0.162017475 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 6.841208668 1.384809842 - 9.473773094 - BRCA1_00705
11 c.706A>T 825A>T p.T236A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.637211837 1.033092037 - 1.691390512 - BRCA1_00638
11 c.716A>G 835A>G p.H239R 0.000925328 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.9986 - 0.041217819 1.102597599 - 0.045383043 - BRCA1_00639
11 c.722C>T 841C>T p.P241R 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_00640
11 c.734A>T 853A>T p.D245G - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.2834 - - - - 1.2834 - BRCA1_00706
11 c.736T>G 855T>G p.L246V 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 - - - 2.60E-05 - 2.60000E-5 - BRCA1_00017
11 c.743C>A 862C>A p.T248N 0.271662993 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 17.69111354 1.033092037 - 18.27654853 - BRCA1_00642
11 c.755G>A 874G>A p.R252H - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.483405811 1.176779436 - 0.568862018 - BRCA1_00707
11 c.792T>A 911T>A p.S264R 0.007763538 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.371109079 1.033092037 - 0.383389834 - BRCA1_00644
11 c.804C>G 923C>G p.N268K - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.8501 0.64 - - - 0.544064 - BRCA1_00650
11 c.817C>T 936C>T p.P273A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.455963655 1.033092037 - 1.504144459 - BRCA1_00658
11 c.823G>A 942G>A p.G275S 0.004267425 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.21 - - - 0.21 - BRCA1_00661
11 c.824G>A 943G>A p.G275D 0.007695754 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.274417782 1.384809842 - 0.380016445 - BRCA1_00662
11 c.827C>G 946C>G p.T276R 4.5123E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.3303 0.196 0.029984209 1.1390848 - 0.002211125 - BRCA1_00663
11 c.839C>G 958C>G p.A280G 0.00008 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 - 1.15 0.00324 - 0.00373 - BRCA1_00059
11 c.890T>A 1009T>A p.M297R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.779710926 1.067279157 - 0.83216922 - BRCA1_00665
11 c.891G>A 1010G>A p.M297I 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 0.00316 - 0.00316 - BRCA1_00118
11 c.891G>T 1010G>T p.M297I 0.000632084 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.989966332 0.031305819 - 0.030991707 - BRCA1_00666
11 c.902A>G 1021A>G p.K301R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.718851415 1.067279157 - 0.767215132 - BRCA1_00667
11 c.924C>A 1043C>A p.S308R 0.107180777 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 5.693907831 1.033092037 - 5.882330841 - BRCA1_00668
11 c.932C>T 1051C>T p.P311R 0.003119227 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.143655352 1.067279157 - 0.153320363 - BRCA1_00669
11 c.946A>G 1065A>G p.S316G 2.2104E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0135756 0.015497798 0.235668619 2.184420982 - 0.00010831 - BRCA1_00713
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
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Comments Hide Comments column Descending
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DB-ID Hide DB-ID column Descending
Ascending
11 c.955A>G 1074A>G p.N319D 0.007039269 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.336242476 1.033092037 - 0.347369424 - BRCA1_00671
11 c.964G>A 1083G>A p.A322T 0.005925472 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.26490064 1.102597599 - 0.292078809 - BRCA1_00672
11 c.964G>C 1083G>C p.A322P 0.004949383 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.213966543 1.1390848 - 0.243726036 - BRCA1_00673
11 c.994C>T 1113C>T p.R332G 0.009608014 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.417317436 1.1390848 - 0.475359948 - BRCA1_00675
11 c.995G>A 1114G>A p.R332Q - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.21 2.978610703 1.102597599 - 0.689683892 - BRCA1_00714
11 c.997A>G 1116A>G p.T333A 1.30882E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.1042 0.08 0.074470536 1.033092037 - 0.000641329 - BRCA1_00677
11 c.1001C>T 1120C>T p.P334L 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 0.107 - 8.91 0.00001 - 9.53370E-6 - BRCA1_00060
11 c.1001C>A
  (Reported 2 times)
1120C>A p.P334H 0.0266 2 - Likely not pathogenic or of little clinical significance Spearman et al. 2008 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 - 0.139 9.65 - - 1.34135 - BRCA1_00102
11 c.1015A>G 1134A>G p.K339E 0.396782842 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.64 - 0.37 - - - 0.37 - BRCA1_00198
11 c.1030G>A 1149G>A p.A344T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.914806725 1.176779436 - 1.076525742 - BRCA1_00199
11 c.1033G>T 1152G>T p.D345Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.0367 - - - - 1.0367 - BRCA1_00200
11 c.1036C>T 1155C>T p.P346S 0.004267425 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.21 - - - 0.21 - BRCA1_00201
11 c.1067A>G 1186A>G p.Q356R 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_00014
11 c.1075C>T 1194C>T p.P359S 0.001638012 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.075326371 1.067279157 - 0.080394266 - BRCA1_00202
11 c.1081T>C 1200T>C p.S361P 0.005223609 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.225883846 1.1390848 - 0.257300856 - BRCA1_00203
11 c.1105G>A 1224G>A p.D369N 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 - 0.00017 1.66 - 0.00028 - BRCA1_00061
11 c.1105_1107del 1225del3 p.D369del 0.00001 1 - Not pathogenic or of no clinical significance Easton et al. 2007 Easton et al. 2007 0.02 0.02 0.00 0.02 1 - 0.05 6.17E-03 - 3.08E-04 - BRCA1_00155
11 c.1106A>G 1225A>G p.D369G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.590916063 1.033092037 - 1.643562716 - BRCA1_00206
11 c.1106_1108del 1225del3 p.D369del 3.97862E-07 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 0.0116 0.57 0.049112297 0.060035116 - 0.0000194952 - BRCA1_00205
11 c.1159T>A 1278T>A p.S387A 6.12241E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0003 - - - - 0.0003 - BRCA1_00593
11 c.1192T>C 1311T>C p.S398P 0.040132281 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.983076777 1.033092037 - 2.048700828 - BRCA1_00208
11 c.1222A>G 1341A>G p.K408E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.444945483 1.297514181 - 1.874837255 - BRCA1_00210
11 c.1231G>A 1350G>A p.D411N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.696664009 1.033092037 - 0.71971804 - BRCA1_00211
11 c.1233T>G 1352T>G p.D411E - - Parsons et al 2019 - 0.02 - 0.02 0.64 1.9264 0.0798 6.482954927 1.297514181 - 1.29310704 - BRCA1_00212
11 c.1243G>A 1362G>A p.V415I 0.007968644 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.984 0.4 - - - 0.3936 - BRCA1_00213
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
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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
11 c.1258G>T
  (Reported 2 times)
1377G>T p.D420Y 0.01418 2 - Likely not pathogenic or of little clinical significance Easton et al. 2007 Vallee et al. 2016 0.02 0.64 0.00 0.64 1 - 6.92E-03 1.17 - 8.09E-03 - BRCA1_00152
11 c.1310A>C 1429A>C p.H437P - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.596618674 1.033092037 - 1.649454039 - BRCA1_00215
11 c.1310A>T 1429A>T p.H437L 0.004739851 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.225883846 1.033092037 - 0.233358803 - BRCA1_00216
11 c.1324T>C 1443T>C p.C442R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.556153571 1.033092037 - 1.607649863 - BRCA1_00218
11 c.1342C>T 1461C>T p.H448Y 0.005866173 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.279876907 1.033092037 - 0.289138604 - BRCA1_00220
11 c.1361G>A 1480G>A p.S454N 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_00226
11 c.1367T>C 1486T>C p.I456T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.700020165 1.1390848 - 0.797382329 - BRCA1_00227
11 c.1383T>A 1502T>A p.F461L 0.000244369 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0048 - 1.986709037 1.255952165 - 0.011977016 - BRCA1_00228
11 c.1396C>G 1515C>G p.R466G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.914806725 1.067279157 - 0.97635415 - BRCA1_00229
11 c.1396C>T 1515C>T p.R466W 0.001844254 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.074470536 1.215721465 - 0.09053543 - BRCA1_00230
11 c.1418A>G 1537A>G p.N473S 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 - 0.0513 0.00324 - 0.00017 - BRCA1_00062
11 c.1418A>T 1537A>T p.N473I 0.000525246 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.34 0.066489318 1.1390848 - 0.02575057 - BRCA1_00232
11 c.1423A>T 1542A>T p.S475C 0.006581861 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.1944 1.67 - - - 0.324648 - BRCA1_00233
11 c.1448T>C 1567T>C p.I483T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.455675089 1.067279157 - 1.553611683 - BRCA1_00234
11 c.1456T>C 1575T>C p.F486L 0.00000 1 - Not pathogenic or of no clinical significance Spurdle et al. 2008 Tavtigian et al. 2008 0.02 0.01 0.00 0.02 0.0007 0.143 - 9.1225E-07 - 9.13162E-11 - BRCA1_00032
11 c.1465G>A 1584G>A p.E489K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.318751854 1.033092037 - 1.362392039 - BRCA1_00235
11 c.1469C>T 1588C>T p.P490L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.779710926 1.033092037 - 0.805513149 - BRCA1_00236
11 c.1472A>G 1591A>G p.Q491R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.671611784 1.033092037 - 0.693836786 - BRCA1_00237
11 c.1486C>T 1605C>T p.R496C 0.00089 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 1.95 - - 0.0224 - 0.04368 - BRCA1_00026
11 c.1487G>A 1606G>A p.R496H 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 - - - 9.20E-05 - 9.20000E-5 - BRCA1_00018
11 c.1508A>G 1627A>G p.K503R 0.010082793 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.452648414 1.102597599 - 0.499089055 - BRCA1_00239
11 c.1511G>A 1630G>A p.R504H 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 0.0218 - 0.00065 3.72 - 5.27124E-5 - BRCA1_00063
11 c.1514A>T 1633A>T p.K505I 0.001373241 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.065222985 1.033092037 - 0.067381347 - BRCA1_00240
11 c.1534C>G 1653C>G p.L512V 0.008044958 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.3974 - - - - 0.3974 - BRCA1_00596
11 c.1534C>T 1653C>T p.L512F 0.000142962 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.999899983 0.12 0.033572095 1.739254919 - 0.007006151 - BRCA1_00242
101 - 200
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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.