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LOVD - Variant listings for BRCA2

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10 c.1865C>T 2093C>T p.A622V 0.000432681 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.3 - - 0.000368149 2.743528262 - 0.001010027 -
10 c.1875T>A 2103T>A p.F625L 0.005753057 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.270071489 1.049836689 - 0.283530958 -
10 c.1885C>T 2113C>T p.L629F 0.006632596 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.311636266 1.049836689 - 0.327167186 -
10 c.1889C>A 2117C>A p.T630K 0.132441657 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 7.300643137 1.024615386 - 7.480351284 -
10 c.1889C>T 2117C>T p.T630I 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1 - 0.00002 0.26303 - 5.26060E-6 -
10 c.1897A>G 2125A>G p.N633D 0.004363436 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 5.239658857 0.040984612 - 0.214745387 -
10 c.1910-45G>C IVS10-45G>C - 0.002685835 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 0.2713 0.4864 - - - 0.13196032 -
10 c.1910-17T>C IVS10-17T>C - 0.017437954 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.415705641 1.024615386 - 0.425938396 -
11 c.1938C>A 2166C>A p.S646R 0.008103161 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.390681809 1.024615386 - 0.400298593 -
11 c.1964C>G 2192C>G p.P655R 0.00007 1 - Not pathogenic or of no clinical significance Goldgar et al., AJHG 75: 535-544, 2004. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.48 - - 0.007 - 0.00336 -
11 c.1996A>G 2224A>G p.I666V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.112270415 1.024615386 - 1.139649381 -
11 c.2003G>A 2231G>A p.R668K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.89 1.22680738 1.049836689 - 1.146273183 -
11 c.2024C>G 2252C>G p.T675R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.70265866 1.049836689 - 0.737676841 -
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 -
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 -
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 -
11 c.2144G>A 2372G>A p.G715E - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.7051 - - - - 1.7051 -
11 c.2187A>G 2415A>G p.I729M - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.6305 1.06 - - - 1.72833 -
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 -
11 c.2233A>G 2461A>G p.K745E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.549872803 1.075678821 - 0.591486529 -
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 -
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 -
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 -
11 c.2335C>G 2563C>G p.L779V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.348397066 1.024615386 - 1.381588379 -
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 -
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11 c.2350A>G 2578A>G p.M784V 0.0763 3 - Uncertain 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 - - 4.05 - - 4.05 -
11 c.2416G>C 2644G>C p.D806H 0.00008 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.21878 - 0.26915 0.06607 - 0.00389 -
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 -
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 -
11 c.2491G>A 2719G>A p.V831I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.733500029 1.049836689 - 0.770055242 -
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 -
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 -
11 c.2555A>G 2783A>G p.N852S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.776322802 1.102157073 - 0.855629667 -
11 c.2572A>G 2800A>G p.R858G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.129287087 - 0.555587934 -
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 -
11 c.2591A>T 2819A>T p.Q864L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.538217837 1.024615386 - 1.576081662 -
11 c.2599A>G 2827A>G p.T867A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.861252833 1.024615386 - 1.907068289 -
11 c.2606C>T
  (Reported 2 times)		 2834C>T p.S869L 0.1037 3 - Uncertain Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 9.43 0.52 - 1.156 - 5.66856 -
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 -
11 c.2680G>A 2908G>A p.V894I 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.03311 - 0.12589 0.09772 - 0.00041 -
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 -
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 -
11 c.2716A>G 2944A>G p.T906A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.478135484 1.244651749 - 0.595112167 -
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 -
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 -
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 -
11 c.2789A>G 3017A>G p.Y930C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.776322802 1.024615386 - 0.795432287 -
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 -
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 -
11 c.2848G>A 3076G>A p.V950I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.714957389 1.024615386 - 0.732556341 -
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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 -
11 c.2874T>C 3102T>C p.S958S - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.8285 - - - - 0.8285 -
11 c.2876T>A 3104T>A p.V959E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.024615386 - 0.504091433 -
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 -
11 c.2927_2929del 3155delCCT - - - Parsons et al 2019 - - - 0.02 0.02 - - 1.861252833 1.024615386 - 1.907068289 -
11 c.2941A>G 3169A>G p.K981E - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.845804261 1.024615386 - 0.866624059 -
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 -
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 -
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 -
11 c.2965T>G 3193T>G p.Y989D - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.541767066 1.024615386 - 0.555102871 -
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 -
11 c.2980G>A 3208G>A p.A994T - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.85584018 1.024615386 - 0.876907016 -
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 -
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 -
11 c.3055C>G 3283C>G p.L1019V 0.00000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 0.00066 - 0.00015 3.46737 - 3.43270E-7 -
11 c.3064C>T 3292C>T p.H1022Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.31833358 1.024615386 - 1.35078487 -
11 c.3065A>G 3293A>G p.H1022R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.721899231 1.049836689 - 0.757876298 -
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 -
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 -
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 -
11 c.3092T>C 3320T>C p.F1031S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.916821082 1.024615386 - 0.939388986 -
11 c.3142G>A 3370G>A p.V1048I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.922253472 1.049836689 - 0.968215531 -
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 -
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 -
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 -
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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 -
11 c.3206C>T 3434C>T p.S1069F - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.052171389 1.024615386 - 1.078070993 -
11 c.3211C>T 3439C>T p.H1071Y - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.075678821 - 0.529213679 -
11 c.3216A>T 3444A>T p.L1072F - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.88 - - - 0.88 -
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 -
11 c.3227T>C 3455T>C p.V1076A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.89 - - - 0.89 -
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 -
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 -
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 -
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 -
11 c.3299A>T 3527A>T p.N1100I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.512489048 1.129287087 - 1.708034351 -
11 c.3304A>T 3532A>T p.N1102Y 0.00008 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.02 0.01 0.00 0.02 1 - 0.00295 1.38038 - 0.00407 -
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 -
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 -
11 c.3382A>G 3610A>G p.T1128A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.210034577 1.075678821 - 1.301608568 -
11 c.3413A>T 3641A>T p.Q1138L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.801601969 1.024615386 - 0.82133371 -
11 c.3431T>G 3659T>G p.V1144G - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.561752801 1.024615386 - 0.575580563 -
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 -
11 c.3437A>T 3665A>T p.E1146V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.292980603 1.024615386 - 1.324807819 -
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 -
11 c.3451A>G 3679A>G p.I1151V - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.109359013 1.075678821 - 1.193313995 -
11 c.3453C>G 3681C>G p.I1151M - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.006522222 1.102157073 - 1.109345586 -
11 c.3458A>G 3686A>G p.K1153R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.508031796 1.214750213 - 0.617131732 -
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 -
11 c.3509C>T
  (Reported 2 times)		 3737C>T p.A1170V 0.2299 3 - Uncertain 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 - 0.892 16.4 - - 14.6288 -
201 - 300
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Legend: [ BRCA2 full legend ]

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.

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