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LOVD - Variant listings for BRCA2

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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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- 11 c.2024C>G 2252C>G p.T675R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.70265866 1.049836689 - 0.737676841 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2122T>A 2350T>A p.S708T 0.062693875 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 3.121892865 1.049836689 - 3.277477668 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2125C>G 2353C>G p.L709V 0.00628902 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.281368512 1.102157073 - 0.310112295 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2135T>C 2363T>C p.L712P 0.009899089 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.478135484 1.024615386 - 0.489904974 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2144G>A 2372G>A p.G715E - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.7051 - - - - 1.7051 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2187A>G 2415A>G p.I729M - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.6305 1.06 - - - 1.72833 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2213G>T 2441G>T p.C738F 0.0049633 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.227219131 1.075678821 - 0.244414807 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2233A>G 2461A>G p.K745E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.549872803 1.075678821 - 0.591486529 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2303C>T 2531C>T p.T768I 0.007202439 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.07 0.308850705 1.075678821 - 0.355479854 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2320A>G 2548A>G p.T774A 0.001656333 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.09431147 0.775284 0.735365908 1.511940977 - 0.081294968 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2330A>G 2558A>G p.D777G 0.006699955 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.307259203 1.075678821 - 0.330512217 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2335C>G 2563C>G p.L779V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.348397066 1.024615386 - 1.381588379 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2348T>G 2576T>G p.V783G 0.008491618 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.399731529 1.049836689 - 0.419652824 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2429C>T 2657C>T p.T810I 0.009215718 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.423704955 1.075678821 - 0.455770446 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2459A>G 2687A>G p.D820G - - Parsons et al 2019 - 0.02 - 0.02 0.3 1.0545 1.06 0.71977202 1.102157073 - 0.886728978 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2491G>A 2719G>A p.V831I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.733500029 1.049836689 - 0.770055242 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2515T>C 2743T>C p.Y839H 0.003615764 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.165305245 1.075678821 - 0.177815351 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2528C>T 2756C>T p.A843V 0.005715097 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.182 0.7314 2.065007283 1.024615386 - 0.281649383 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2555A>G 2783A>G p.N852S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.776322802 1.102157073 - 0.855629667 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2572A>G 2800A>G p.R858G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.129287087 - 0.555587934 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2589T>A 2817T>A p.N863K 0.0099437 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.40513261 1.214750213 - 0.492134924 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2591A>T 2819A>T p.Q864L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.538217837 1.024615386 - 1.576081662 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2599A>G 2827A>G p.T867A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.861252833 1.024615386 - 1.907068289 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2606C>T 2634C>T p.S869L 0.197912858 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 11.7517 0.89 - 1.156 - 12.09061903 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2632G>C 2860G>C p.D878H 0.009744438 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.470592211 1.024615386 - 0.482176019 - - 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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Product of LRs Hide Product of LRs column Descending
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- 11 c.2698A>G 2926A>G p.N900D 0.000293204 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.281724664 0.051011567 - 0.014371216 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2714A>G 2942A>G p.N905S 0.056022067 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.838131367 1.024615386 - 2.907993066 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2716A>G 2944A>G p.T906A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.478135484 1.244651749 - 0.595112167 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2755G>A 2983G>A p.E919K 9.62378E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0003 1.1236 1.365375586 1.024615386 - 0.00047157 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2779A>G 3007A>G p.M927V 0.009299407 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.6163 1.07 0.664371852 1.049836689 - 0.459948192 - - United States:Salt Lake City DNA SEQ - 1
-/? 11 c.2786T>C 3014T>C p.L929S 0.00007 1 - Not pathogenic or of no clinical significance Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 - 0.73 4.97 0.001 - 0.00363 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2789A>G 3017A>G p.Y930C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.776322802 1.024615386 - 0.795432287 - - United States:Salt Lake City DNA SEQ - 1
?/? 11 c.2803G>A 3031G>A p.D935N 0.00005 1 - Not pathogenic or of no clinical significance Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Vallee MP et al., Human Mutation 37: 627-639, 2016 0.02 0.64 0.00 0.64 2.7 0.72 - 1.33E-05 - 2.59E-05 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2803G>C 3031G>C p.D935H 0.000816141 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.028474991 1.405569136 - 0.040023569 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2848G>A 3076G>A p.V950I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.714957389 1.024615386 - 0.732556341 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2872A>G 3100A>G p.S958G 0.008491618 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.399731529 1.049836689 - 0.419652824 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2874T>C 3102T>C p.S958S - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.8285 - - - - 0.8285 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2876T>A 3104T>A p.V959E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.024615386 - 0.504091433 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2920G>A 3148G>A p.D974N 0.00777708 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.374837062 1.024615386 - 0.384063821 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2927_2929del 3155delCCT - - - Parsons et al 2019 - - - 0.02 0.02 - - 1.861252833 1.024615386 - 1.907068289 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2941A>G 3169A>G p.K981E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.845804261 1.024615386 - 0.866624059 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2944A>C 3172A>C p.I982L 0.001455236 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.0291 0.6072 1.948547774 2.074083157 - 0.071410484 - - United States:Salt Lake City DNA SEQ - 1
?/? 11 c.2960A>T 3188A>T p.N987I 0.00007 1 - Not pathogenic or of no clinical significance Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 - 0.73 4.97 0.001 - 0.00363 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2963A>C 3191A>C p.D988A 0.00800104 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.385718484 1.024615386 - 0.395213094 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2965T>G 3193T>G p.Y989D - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.541767066 1.024615386 - 0.555102871 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2969T>A 3197T>A p.M990K 0.070967643 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 3.653126803 1.024615386 - 3.743049929 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2980G>A 3208G>A p.A994T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.85584018 1.024615386 - 0.876907016 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.2987T>G 3215T>G p.L996R 0.000660779 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.666795446 0.048590003 - 0.032399592 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3032C>G 3260C>G p.T1011R 0.050550463 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 3.5534454 0.273334829 2.106182423 1.275289324 - 2.608851321 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3064C>T 3292C>T p.H1022Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.31833358 1.024615386 - 1.35078487 - - United States:Salt Lake City DNA SEQ - 1
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case-control LR Hide case-control LR column Descending
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- 11 c.3065A>G 3293A>G p.H1022R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.721899231 1.049836689 - 0.757876298 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3071_3073del 3299del3 - 0.004728802 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.227219131 1.024615386 - 0.232812218 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3073A>G 3301A>G p.K1025E 0.039878446 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 0.445 - 3.253837491 1.405569136 - 2.03520463 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3088T>G 3316T>G p.F1030V 0.008476197 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.380058539 1.102157073 - 0.418884207 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3092T>C 3320T>C p.F1031S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.916821082 1.024615386 - 0.939388986 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3142G>A 3370G>A p.V1048I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.922253472 1.049836689 - 0.968215531 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3152T>C 3380T>C p.L1051S 0.007940525 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.3922 - - - 0.3922 - - United States:Salt Lake City DNA SEQ - 1
?/? 11 c.3156A>C 3384A>C p.A1052A 0.001 1 - Not pathogenic or of no clinical significance Thomassen M et al., Breast Cancer Res Treat. 2012 Apr, 132(3):1009-23. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.02 0.00 0.02 0.025 - - 1.03 - 0.0256 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3172A>C 3400A>C p.K1058Q 0.006244999 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.293310329 1.049836689 - 0.307927944 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3197A>G 3425A>G p.N1066S 0.009744438 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.470592211 1.024615386 - 0.482176019 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3206C>T 3434C>T p.S1069F - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.052171389 1.024615386 - 1.078070993 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3211C>T 3439C>T p.H1071Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.075678821 - 0.529213679 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3216A>T 3444A>T p.L1072F - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.88 - - - 0.88 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3218A>G 3446A>G p.Q1073R 0.048511975 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.00721483 1.244651749 - 2.49828345 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3227T>C 3455T>C p.V1076A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.89 - - - 0.89 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3254A>G 3482A>G p.H1085R 0.1203164 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 6.230340682 1.075678821 - 6.701845521 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3256A>G 3484A>G p.I1086V 0.115624324 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.3 - - 0.263647687 1.157084926 - 0.305062764 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3260C>T 3488C>T p.T1087I 0.006632596 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.319307311 1.024615386 - 0.327167184 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3262C>T 3490C>T p.P1088S 0.045090307 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 0.9456 1.8974 0.755285978 1.707415377 - 2.313752869 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3299A>T 3527A>T p.N1100I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.512489048 1.129287087 - 1.708034351 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3318C>G 3546C>G p.S1106R 0.009505032 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.4436 1.06 - - - 0.470216 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3326C>T 3554C>T p.A1109V 0.028064835 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.3 - - 0.040431855 1.666396398 - 0.067375497 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3382A>G 3610A>G p.T1128A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.210034577 1.075678821 - 1.301608568 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3413A>T 3641A>T p.Q1138L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.801601969 1.024615386 - 0.82133371 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3431T>G 3659T>G p.V1144G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.561752801 1.024615386 - 0.575580563 - - United States:Salt Lake City DNA SEQ - 1
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case-control LR Hide case-control LR column Descending
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- 11 c.3437A>G 3665A>G p.E1146G 0.08564823 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 4.371992609 1.049836689 - 4.589878242 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3437A>T 3665A>T p.E1146V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.292980603 1.024615386 - 1.324807819 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3445A>G 3673A>G p.M1149V 0.01023128 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.3 - - 0.418697052 0.057606718 - 0.024119763 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3451A>G 3679A>G p.I1151V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.109359013 1.075678821 - 1.193313995 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3453C>G 3681C>G p.I1151M - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.006522222 1.102157073 - 1.109345586 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3458A>G 3686A>G p.K1153R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.508031796 1.214750213 - 0.617131732 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3503T>C 3731T>C p.M1168T 0.008350263 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.402695746 1.024615386 - 0.412608257 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3509C>T 3737C>T p.A1170V 0.103757618 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - 2.916606 1.680922137 1.157084926 - 5.672710202 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3512C>T 3740C>T p.P1171L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.044002338 1.024615386 - 1.069700859 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3515C>G 3743C>G p.S1172W - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.561752801 1.024615386 - 0.575580563 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3526G>A 3754G>A p.V1176I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.745257639 1.049836689 - 0.782398812 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3539A>G 3767A>G p.K1180R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.327325402 1.18556701 - 1.573633208 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3569G>A 3797G>A p.R1190Q 0.00922187 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.07 0.368374588 1.157084926 - 0.456077531 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3575T>G 3803T>G p.F1192C 0.001730342 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.08090186 1.049836689 - 0.084933741 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3598T>A 3826T>A p.C1200S 0.008702976 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.419854854 1.024615386 - 0.430189743 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3622T>A 3850T>A p.L1208I 0.004728802 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.227219131 1.024615386 - 0.232812218 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3635A>G 3863A>G p.N1212S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.867446342 1.024615386 - 1.913414254 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3635A>T 3863A>T p.N1212I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.65207944 1.102157073 - 0.718693967 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3661T>C 3889T>C p.S1221P - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.878709294 1.075678821 - 0.945208978 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3662C>A 3890C>A p.S1221Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.561752801 1.049836689 - 0.5897487 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3677A>T 3905A>T p.K1226I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.542951229 1.024615386 - 0.556316183 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3731T>C 3959T>C p.I1244T 0.004693734 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.21482026 1.075678821 - 0.231077604 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3749A>G 3977A>G p.E1250G - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.7809 1.1342 0.247066296 1.102157073 - 0.55002974 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3767A>G 3995A>G p.H1256R 0.348116203 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.64 - - 0.2792505 1.075678821 - 0.300383849 - - United States:Salt Lake City DNA SEQ - 1
- 11 c.3772A>G 4000A>G p.I1258V - - Parsons et al 2019 - 0.02 - 0.02 0.64 - - 0.666811163 1.049836689 - 0.700042824 - - United States:Salt Lake City DNA SEQ - 1
201 - 300
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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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