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LOVD - Variant listings for BRCA2

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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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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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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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Disease Hide Disease column Descending
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- 15 c.7457A>G 7685A>G p.N2486S 0.014348104 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.459367827 1.024615386 - 0.470675344 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7463G>A 7691G>A p.R2488K 0.060436389 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.887032182 1.102157073 - 2.079805866 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7466A>G 7694A>G p.D2489G 0.07721826 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.3 - - 0.181516114 1.075678821 - 0.19525304 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7484T>C 7712T>C p.I2495T - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.66533666 1.102157073 - 0.733305506 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7488G>C 7716G>C p.K2496N - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.07 - - - 1.07 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7491_7493del 7719del3 - - - Parsons et al 2019 - - - 0.02 0.81 - - 0.666795446 1.049836689 - 0.700026323 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7499G>C 7727G>C p.R2500T 0.009487998 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.287927202 1.075678821 - 0.309717193 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7504C>T 7732C>T p.R2502C 0.117389523 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 0.1671 1.2213 6.719715937 3.135891423 - 4.30041867 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7505G>A 7733G>A p.R2502H 0.000539882 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.127968614 0.107021619 1.275289324 - 0.017465608 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7505G>C 7733G>C p.R2502P - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.467331144 1.024615386 - 1.503450066 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7512T>G 7740T>G p.F2504L 0.011055771 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.352782342 1.024615386 - 0.361466215 - - United States:Salt Lake City DNA SEQ - 1
?/? 15 c.7521A>G 7749A>G p.P2507P 0.000 1 - Not pathogenic or of no clinical significance Whiley PJ et al., PLoS One. 2014 Jan 28, 9(1):e86836. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.02 0.00 0.02 0.01 - - - - 0.01 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7531T>C 7759T>C p.Y2511H - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 1.11613805 1.024615386 - 1.143612219 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7534C>T 7762C>T p.L2512F 0.00042824 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.099 0.2848 1.162971443 1.244651749 0.339415843 0.013852374 - - United States:Salt Lake City DNA SEQ - 1
?/? 15 c.7534C>T 7762C>T p.L2512F 0.003 2 - Likely not pathogenic or of little clinical significance Whiley PJ et al., PLoS One. 2014 Jan 28, 9(1):e86836. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.02 0.00 0.03 0.11 - - - - 0.11 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7559G>T 7787G>T p.R2520L - - Parsons et al 2019 - 0.81 - 0.02 0.81 - 1.06 - - - 1.06 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7561A>G 7789A>G p.I2521V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.511697486 1.024615386 - 0.524293117 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7562T>C 7790T>C p.I2521T 0.001127954 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.026 1.06 1.292980603 1.024615386 - 0.036511703 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7598C>G 7826C>G p.S2533C 0.111916758 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.3 0.4084 0.72 - - - 0.294048 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7601C>T 7829C>T p.A2534V 0.010746813 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.268814774 1.306681054 - 0.351255173 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7617+1G>T IVS15+1G>T - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 0.71977202 1.024615386 - 0.737489486 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7617+2T>G IVS15+2T>G - 0.991829713 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 2.721139373 0.808992 1.585519943 1.075678821 - 3.754476068 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7618-16T>G IVS15-16T>G - 0.104312496 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.205116854 1.102157073 - 0.226070992 - - United States:Salt Lake City DNA SEQ - 1
- 15 c.7618-2A>G IVS15-2A>G - 0.994900314 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.301899484 1.962576 2.285823557 1.033092037 - 6.033727007 - - United States:Salt Lake City DNA SEQ - 1
?/? 16 c.7618-1G>A IVS15-1G>A - 1.000 5 - Definitely pathogenic Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.97 0.00 0.97 1 - 32.36 2.88 - 93.20 - - 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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Disease Hide Disease column Descending
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- 16 c.7625C>G 7853C>G p.T2542R 0.823279986 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.64 - - 2.557546115 1.024615386 - 2.620501099 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7631G>A 7859G>C p.G2544D - - Parsons et al 2019 - 0.81 - 0.02 0.81 - 1.1236 - - - 1.1236 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7633G>A 7861G>A p.V2545I 0.004233313 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.33 0.396768873 1.049836689 - 0.137459032 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7639A>G 7867A>G p.K2547E - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.640214484 1.049836689 - 0.672120654 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7643A>G 7871A>G p.H2548R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.834020683 1.024615386 - 0.854550424 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7648A>G 7876A>G p.I2550V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.714957389 1.049836689 - 0.750588498 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7651A>C 7879A>C p.K2551Q - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.776322802 1.075678821 - 0.835073996 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7660A>G 7888A>G p.S2554G - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.901671497 1.024615386 - 0.923866489 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7696G>T 7924G>T p.D2566Y 0.117879264 3 - Uncertain Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.319307311 1.024615386 - 0.327167184 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7759C>T 7987C>T p.L2587F - - Parsons et al 2019 - 0.29 - 0.02 0.29 0.51145388 2.045627709 - - - 1.046244229 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7766C>A 7994C>A p.P2589H - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.44418179 1.024615386 - 1.479730882 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7783G>T 8011G>T p.A2595S 0.040501945 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.093766702 1.102157073 - 0.103345634 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7787G>T 8015G>T p.G2596V - - Parsons et al 2019 - 0.81 - 0.02 0.81 - 1.4499 - - - 1.4499 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7795_7797del 8023del3 - - - Parsons et al 2019 - - - 0.02 0.81 - - 0.845804261 1.024615386 - 0.866624059 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7805+8A>G IVS16+8A>G - 0.008488066 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.362528095 1.157084926 - 0.419475794 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7806-11del IVS16-14delC - - - Parsons et al 2019 - - - 0.02 0.02 - - 1.237417811 1.024615386 - 1.267877327 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7806-6del IVS16-6delG - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.650893376 1.049836689 - 0.683331746 - - United States:Salt Lake City DNA SEQ - 1
- 16 c.7806-2A>G IVS16-2A>G - 0.998458708 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 7.110869606 1.202252 1.667340928 1.405569136 - 20.03525371 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7806-2_7806-1dup IVS16-2insAG - 0.999736734 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.99 8.7662 4.37566656 - - - 38.3579682 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7819A>C 8047A>C p.T2607P 0.958511062 4 - Likely Pathogenic Parsons et al 2019 - 0.66 - 0.02 0.66 - - 11.61552702 1.024615386 - 11.9014477 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7820C>T 8048C>T p.T2607I - - Parsons et al 2019 - 0.81 - 0.02 0.81 - 1.07 0.650910796 1.024615386 - 0.713618541 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7828G>A 8056G>A p.V2610M 0.870519083 3 - Uncertain Parsons et al 2019 - 0.29 - 0.02 0.64 0.83 - 4.446886961 1.024615386 - 3.781769502 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7871A>G 8099A>G p.Y2624C - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 1.172108812 1.102157073 - 1.291848017 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7880T>A 8108T>A p.I2627N - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.661315409 1.024615386 - 0.677593943 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7883T>C 8111T>C p.I2628T 0.453588343 3 - Uncertain Parsons et al 2019 - 0.29 - 0.02 0.29 1.8088 1.1236 - - - 2.03236768 - - United States:Salt Lake City DNA SEQ - 1
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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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- 17 c.7915C>G 8143C>G p.P2639A - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.580175601 1.024615386 - 0.594456847 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7928C>G 8156C>G p.A2643G 0.063662307 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.64 0.041 0.9328 - - 0.032762729 0.0382448 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7928C>T 8156C>T p.A2643V - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.666795446 1.024615386 - 0.683208873 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7930A>G 8158A>G p.N2644D - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.288431717 1.024615386 - 1.32014696 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7931A>G 8159A>G p.N2644S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.653337939 1.024615386 - 0.669420104 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7964A>G 8192A>G p.Q2655R - - Parsons et al 2019 - 0.66 - 0.02 0.66 0.529138898 1.24584768 - - - 0.659226469 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7975A>G 8203A>G p.R2659G 0.999974994 5 - Pathogenic Parsons et al 2019 - 0.81 0.34 0.02 0.81 1950 0.86115312 5.068240677 1.102157073 - 9380.278069 - - United States:Salt Lake City DNA SEQ - 1
?/? 17 c.7976G>A 8204G>A R2659K 0.99943 5 - Definitely pathogenic Farrugia DJ et al., Cancer Research 68:3523-3531, 2008. Vallee MP et al., Human Mutation 37: 627-639, 2016 0.29 0.34 0.00 0.34 - - 1.55E+03 2.19 - 3.39E+03 - - United States:Salt Lake City DNA SEQ - 1
?/? 17 c.7976G>C 8204G>C p.R2659T 0.998 5 - Definitely pathogenic Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Vallee MP et al., Human Mutation 37: 627-639, 2016 0.81 0.34 0.00 0.97 14.7 1 1 1 - 14.7 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7976+1G>A IVS17+1G>A - 0.999776288 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 0.7080605 - 160.5676159 1.215721465 - 138.217302 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7976+23C>T IVS17+23C>T - 2.09232E-09 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 - 2.613378994 - - 3.92304E-08 0.000000102524 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7977-15T>G IVS17-15T>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.082639742 1.024615386 - 1.109289337 - - United States:Salt Lake City DNA SEQ - 1
- 17 c.7977-1G>C IVS17-1G>C - 0.999999998 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1984739.681 10.20129138 - - - 20246907.8 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.7985C>A 8213C>A p.T2662K - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.565976745 1.102157073 - 0.623795272 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.7985C>T 8213C>T p.T2662M 0.06403194 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 1.0157 - 2.07443061 1.049836689 - 2.212005032 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.7987G>A 8215G>A p.E2663K - - Parsons et al 2019 - 0.66 - 0.02 0.66 - 0.81 0.882012538 1.129287087 - 0.806796749 - - United States:Salt Lake City DNA SEQ - 1
?/? 18 c.7988A>T 8216A>T p.E2663V 0.999 5 - Definitely pathogenic Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.81 0.30 0.00 0.81 138.04 - 1.12 1.51 - 233.45 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.7992T>G 8220T>G p.I2664M - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.133553295 1.024615386 - 1.161456147 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.7994A>G 8222A>G p.D2665G 2.60071E-07 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.81 - 0.02 0.81 0.000008098 0.2415 0.2427082 0.128523294 - 0.0000000610044 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8009C>T 8237C>T p.S2670L 0.98302223 4 - Likely Pathogenic Parsons et al 2019 - 0.29 - 0.02 0.29 17.86581111 4.739526787 1.220376873 1.371801717 - 141.7565161 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8011G>T 8239G>T p.A2671S - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 1.249955187 1.024615386 - 1.280723316 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8014A>G 8242A>G p.I2672V 0.11658096 3 - Uncertain Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.293141788 1.102157073 - 0.323088295 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8023A>G 8251A>G p.I2675V 0.999651188 5 - Pathogenic Parsons et al 2019 - 0.29 - 0.02 0.64 605.1396929 0.88 2.883498045 1.049836689 - 1612.054499 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8027T>C 8255T>C p.M2676T - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.15 0.832640877 1.157084926 - 1.10795164 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8032A>G 8260A>G p.R2678G - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 0.785763889 1.024615386 - 0.80510577 - - United States:Salt Lake City DNA SEQ - 1
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Missense analysis Prior P Hide Missense analysis Prior P 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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- 18 c.8035G>T 8263G>T p.D2679Y 0.953053101 4 - Likely Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 3.5432 1.06 1.237417811 1.024615386 - 4.761883522 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8036A>G 8264A>G p.D2679G - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.579160422 1.102157073 - 0.638325755 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8039A>G 8267A>G p.D2680G - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.801601969 1.049836689 - 0.841551156 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8042C>G 8270C>G p.T2681R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.69 0.85773153 1.102157073 - 0.652294862 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8051A>G 8279A>G p.K2684R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.173388514 1.049836689 - 1.231866312 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8057T>C 8285T>C p.L2686P - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 1.701629425 1.024615386 - 1.743515689 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8084C>T 8312C>T p.S2695L - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.77 0.456838357 1.129287087 - 0.913145934 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8090G>A 8318G>A p.S2697N 0.001437459 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.040326 1.06 0.702884719 1.549157977 - 0.046544763 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8113A>G 8341A>G p.S2705G 0.062461998 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 - - 2.051897789 1.049836689 - 2.15415758 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8117A>G 8345A>G p.N2706S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.69 1.229659475 1.405569136 - 1.19257627 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8134G>A 8362G>A p.D2712N - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.922253472 1.075678821 - 0.992048528 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8135A>T 8363A>T p.D2712V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.066689585 1.102157073 - 1.17565947 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8138C>A 8366C>A p.T2713N - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.588608958 1.049836689 - 1.667779968 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8141A>G 8369A>G p.Q2714R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.62046407 1.049836689 - 0.651385944 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8156T>C 8384T>C p.I2719T - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.508026915 1.024615386 - 0.520532193 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8157T>G 8385T>G p.I2719M - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.907743458 1.024615386 - 0.930087913 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8165C>T 8393C>T p.T2722I 0.929330881 3 - Uncertain Parsons et al 2019 - 0.81 - 0.02 0.81 - - 2.798760809 1.102157073 - 3.08467402 - - United States:Salt Lake City DNA SEQ - 1
?/? 18 c.8168A>G 8396A>G P.D2723G 0.998 5 - Definitely pathogenic Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Vallee MP et al., Human Mutation 37: 627-639, 2016 0.81 0.64 0.00 0.81 1 1 75.86 1.59 - 120.6 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8182G>A 8410G>A p.V2728I 0.000345012 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 7.607259039 0.001466919 - - - 0.011159236 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8191C>G 8419C>G p.Q2731E - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.953713744 1.024615386 - 0.977189775 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8206C>G 8434C>G p.L2736V - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.500012027 1.024615386 - 0.512320016 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8212G>A 8440G>A p.A2738T - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.082639742 1.024615386 - 1.109289337 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8215G>A 8443G>A p.V2739I 0.083262903 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.89 1.840798594 1.792507344 - 2.936684049 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8229_8243del 8457del15 - 0.918470115 3 - Uncertain Parsons et al 2019 - - - 0.02 0.81 - - 2.397581004 1.102157073 - 2.64251086 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8249_8251del 8477del3 - - - Parsons et al 2019 - - - 0.02 0.81 - 1.007512 0.580175601 1.075678821 - 0.628770715 - - United States:Salt Lake City DNA SEQ - 1
601 - 700
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Legend: [ BRCA2 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: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. BIC DNA change: Variation at DNA-level, BIC format Protein change: Variation at protein level. Posterior P: Posterior probability IARC Class: IARC Class Key Observational Reference: Primary reference Prior P reference: Secondary reference Missense analysis Prior P: Align-GVGD prior probability Splicing prior P: Splicing prior probability Other Prior P: Custom Priors other than missense or splice (short legend) Combined prior P: Combined prior probability Segregation LR: Segregation likelihood ratio Pathology LR: Pathology likelihood ratio Sum Family LR: Summary Family History likelihood ratio Co-occurrence LR: Co-occurrence likelihood ratio case-control LR: case-control likelihood ratios from iCOGS (short legend) Product of LRs: Product of likelihood ratios Comments: alternate references, caveats, and additional information. 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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