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LOVD - Variant listings for BRCA2

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20 c.8633-4T>A IVS20-4T>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.975526615 1.024615386 - 0.999539579 -
20 c.8633-2A>G IVS20-2A>G - 0.996783195 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.294056 1.06 6.654950862 1.049836689 - 9.583530626 -
20 c.8633-1G>A IVS20-1G>A - - - Parsons et al 2019 - - 0.97 0.02 0.97 1.0152 - 1.112556859 1.075678821 - 1.214944509 -
21 c.8633-16C>G
  (Reported 2 times)		 IVS20-16C>G - 0.003 2 - Likely not pathogenic or of little clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.34 0.00 0.34 0.17 - 0.02 1.86 - 6.03E-03 -
21 c.8633-24_8634del IVS20-24del26 - 0.990758021 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.97 - - 3.1581328 1.049836689 - 3.315523681 -
21 c.8641A>G 8869A>G p.T2881A - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.0157 - - - - 1.0157 -
21 c.8647C>T 8875C>T p.P2883S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.845804261 1.18556701 - 1.002757629 -
21 c.8651A>G 8879A>G p.Y2884C 0.014693541 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.470592211 1.024615386 - 0.482176019 -
21 c.8662C>T 8890C>T p.R2888C 0.00002 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. 0.03 0.01 0.00 0.03 0.22909 - 0.07762 0.04467 - 0.00079 -
21 c.8663G>A 8891G>A p.R2888H - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.809 - 0.901671497 1.024615386 - 1.671274478 -
21 c.8663G>C 8891G>C p.R2888P - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.508026915 1.024615386 - 0.520532193 -
21 c.8687G>A 8915G>A p.R2896H 0.063886557 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.861252833 1.18556701 - 2.206639957 -
21 c.8702G>A 8930G>A p.G2901D - - Parsons et al 2019 - 0.81 - 0.02 0.81 - 1.15 0.580175601 1.075678821 - 0.717694997 -
21 c.8723T>G 8951T>G p.V2908G 0.00749 2 - Likely not pathogenic or of little clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.66 0.01 0.00 0.66 1 - 0.06761 0.05754 - 0.00389 -
21 c.8732C>G 8960C>G p.A2911G - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.57979563 1.049836689 - 0.608690724 -
21 c.8732C>T 8960C>T p.A2911V - - Parsons et al 2019 - 0.03 - 0.02 0.03 0.9969 1.06 0.491981128 1.024615386 - 0.532680474 -
21 c.8734G>A
  (Reported 2 times)		 8962G>A p.A2912T 0.004 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 0.14 - - - - 0.14 -
21 c.8754+3G>C IVS21+3G>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 0.925564652 - - 1.024 - 0.947778203 -
21 c.8754+5G>T IVS21+5G>T - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 1.370262746 1.102157073 - 1.510244777 -
21 c.8754+75A>G IVS21+75A>G - 1.8587E-17 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.001495837 - - 6.08864E-13 9.10762e-16 -
21 c.8754+4A>G
  (Reported 2 times)		 IVS21+4A>G - 0.949 3 - Uncertain Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.34 0.00 0.34 12.09 1 2.22 1.34 - 35.97 -
21 c.8755-19A>G IVS21-19A>G - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 1.08845195 1.049836689 - 1.142696791 -
21 c.8755-1G>A IVS21-1G>A - 0.999891295 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 9.404592975 2.847415369 8.130052819 1.306681054 - 284.4813436 -
22 c.8756G>T 8984G>T p.G2919V - - Parsons et al 2019 - 0.03 0.04 0.02 0.3 - 1.76 0.478135484 1.024615386 - 0.862232754 -
22 c.8764A>G 8992A>G p.S2922G 0.000711552 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.561752801 0.040984612 - 0.023023221 -
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22 c.8782G>T 9010G>T p.A2928S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.31833358 1.102157073 - 1.453010679 -
22 c.8786T>G 9014T>G p.L2929W - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 1.000023538 1.024615386 - 1.024639503 -
22 c.8789A>C 9017A>C p.N2930T 0.012075486 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.385718484 1.024615386 - 0.395213094 -
22 c.8808G>C 9036G>C p.L2936F 0.063414989 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 - - 2.136654616 1.024615386 - 2.189249193 -
22 c.8834A>G 9062A>G p.Q2945R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.833926132 1.049836689 - 1.925322937 -
22 c.8839G>A 9067G>A p.E2947K - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.21 - - - - 1.21 -
22 c.8844T>G 9072T>G p.I2948M - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.491981128 1.024615386 - 0.504091433 -
22 c.8846G>A 9074G>A p.R2949K - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.71977202 1.024615386 - 0.737489486 -
22 c.8850G>T 9078G>T p.K2950N 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. 0.66 0.01 0.00 0.66 1 - 2.51189E-11 0.56234 - 1.41254E-11 -
22 c.8893G>C 9121G>C p.D2965H - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.066689585 1.075678821 - 1.147415395 -
22 c.8905G>A 9133G>A p.V2969M 0.00001 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. 0.03 0.01 0.00 0.03 0.269 - 0.00871 0.151 - 0.00035 -
22 c.8917C>T 9145C>T p.R2973C 0.00000 1 - Not pathogenic or of no clinical significance Farrugia DJ et al., Cancer Research 68:3523-3531, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.03 0.002 - 0.041 1.82 - 0.00015 -
22 c.8918G>A 9146G>A p.R2973H 0.014859657 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.641099995 - 0.568204827 1.338845527 - 0.487709443 -
22 c.8941G>A 9169G>A p.E2981K 0.00911907 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.507087579 0.72 0.776322802 1.049836689 - 0.297563431 -
22 c.8944A>C 9172A>C p.K2982Q - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.80684549 1.075678821 - 0.867906605 -
22 c.8953+1G>T IVS22+1G>T - 0.998 5 - Definitely pathogenic Whiley et al., Human Mutation 32: 678-687, 2011 Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.97 0.00 0.97 - - 12.02 1.17 - 14.06 -
22 c.8953+98T>C IVS22+98T>C - - - Parsons et al 2019 - - - 0.02 0.02 1.8089 0.72 - - - 1.302408 -
22 c.8954-5_8954-2del IVS22-5del4 - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.714957389 1.214750213 - 0.86849464 -
22 c.8954-6A>G IVS22-6A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.467331144 1.024615386 - 1.503450066 -
22 c.8954-5A>G IVS22-5A>G - 0.525895878 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 5.776158511 0.37277944 - - - 2.153233135 -
23 c.8954-1_8955delinsAA IVS22-1del3insAA - 0.993614789 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.97 - - 3.773840991 1.275289324 - 4.812739127 -
23 c.8958A>G 9186A>G p.I2986M 0.061035691 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 - - 2.051277351 1.024615386 - 2.101770334 -
23 c.8975_9100del 9201del126 - 0.986217044 4 - Likely Pathogenic Parsons et al 2019 - - - 0.02 0.81 - - 13.48499732 1.244651749 - 16.7841255 -
23 c.9004G>A 9232G>A p.E3002K 0.936938571 3 - Uncertain Parsons et al 2019 - 0.66 - 0.02 0.66 30.26461 0.41603205 0.347472426 1.749444114 - 7.653891318 -
23 c.9011A>G 9239A>G p.K3004R 0.009721267 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.309781167 1.024615386 - 0.31740655 -
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23 c.9038C>T
  (Reported 2 times)		 9266C>T p.T3013I 0.007 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 0.23 - - - - 0.23 -
23 c.9043A>G 9271A>G p.K3015E 0.000831181 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.656275768 0.040984612 - 0.026897208 -
23 c.9052A>G 9280A>G p.S3018G - - Parsons et al 2019 - 0.03 - 0.02 0.64 - - 1.202698098 1.075678821 - 1.293716873 -
23 c.9052_9057del 9267del6 - - - Parsons et al 2019 - - - 0.02 0.81 - - 0.519002227 1.129287087 - 0.586102513 -
23 c.9059C>G 9287C>G p.S3020C - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.935469836 1.024615386 - 1.983112172 -
23 c.9085G>A 9313G>A p.A3029T 0.072627182 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 3.437999782 - 0.330126709 2.23104744 - 2.5321843 -
23 c.9097A>C 9325A>C p.T3033P - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 0.9499756 1.024615386 - 0.973359616 -
23 c.9101A>G 9329A>G p.Q3034R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.845804261 1.075678821 - 0.90981373 -
23 c.9104A>C 9332A>C p.Y3035S 0.012548019 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.66 - 0.02 0.66 1.070769443 0.003279994 2.14023652 1.666396398 0.522618851 0.006546274 -
23 c.9104A>G 9332A>G p.Y3035C - - Parsons et al 2019 - 0.66 - 0.02 0.66 - 0.89 0.481150617 1.214750213 - 0.520185255 -
23 c.9116C>G 9344C>G p.P3039R - - Parsons et al 2019 - 0.03 0.97 0.02 0.97 0.8288 - - - - 0.8288 -
23 c.9116C>T 9344C>T p.P3039L 0.847294802 3 - Uncertain Parsons et al 2019 - 0.03 0.97 0.02 0.97 1.2616 0.9434 0.107691696 1.338845527 - 0.17160512 -
23 c.9117G>A 9345G>A p.P3039P 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 0.02 0.97 0.00 0.97 1 1 65.28 2.23 - 145.6 -
23 c.9117+1G>A IVS23+1G>A - - - Parsons et al 2019 - - 0.97 0.02 0.97 1.3161 1.1682 0.419172376 1.049836689 - 0.676582081 -
23 c.9117+9C>T IVS23+9C>T - - - Parsons et al 2019 - - - 0.02 0.02 - 1.07 0.671611784 1.033092037 - 0.742405361 -
23 c.9118-14T>C IVS23-14T>C - 0.009309444 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.21482026 1.049836689 - 0.225526191 -
23 c.9118-2A>G IVS23-2A>G - 0.99446573 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 10.89487247 0.51010179 - - - 5.557493944 -
24 c.9118G>A 9346G>A p.V3040I - - Parsons et al 2019 - 0.03 0.04 0.02 0.04 - - 0.885486696 1.024615386 - 0.907283293 -
24 c.9154C>T 9382C>T p.R3052W 1.0000 5 - Definitely pathogenic Farrugia DJ et al., Cancer Research 68:3523-3531, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.81 0.01 0.00 0.81 3981 - 1.62 1.48 - 9544.85 -
24 c.9155G>A
  (Reported 2 times)		 9383G>A p.R3052Q 0.00544 2 - Likely not pathogenic or of little clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.66 0.01 0.00 0.66 1 - 0.0575 0.049 - 0.00282 -
24 c.9161C>A 9389C>A p.P3054H - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.610481679 1.024615386 - 0.625508921 -
24 c.9172A>G 9400A>G p.S3058G - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.580175601 1.024615386 - 0.594456847 -
24 c.9175A>G 9403A>G p.K3059E 0.000879263 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.661315409 0.043027149 - 0.028454517 -
24 c.9187C>T 9415C>T p.P3063S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.666795446 1.102157073 - 0.734913316 -
24 c.9190G>A 9418G>A p.D3064N - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.432795921 1.214750213 - 0.525738937 -
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24 c.9199C>T 9427C>T p.P3067S 0.010915557 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.348258821 1.024615386 - 0.356831346 -
24 c.9206G>T 9434G>T p.C3069F 0.219005663 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.03 8.553661808 1.06 - - - 9.066881517 -
24 c.9215T>A 9443T>A p.V3072E 0.329491229 3 - Uncertain Parsons et al 2019 - 0.66 - 0.02 0.66 - - 0.247066296 1.024615386 - 0.253147928 -
24 c.9235G>A 9463G>A p.V3079I 0.00002 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. 0.03 0.01 0.00 0.03 1 - 0.158 0.00417 - 0.00066 -
24 c.9239C>G 9467C>G p.S3080C - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.491981128 1.049836689 - 0.516499838 -
24 c.9242T>C 9470T>C p.V3081A 0.005656703 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.29 - 0.02 0.29 1.8196 0.89 0.77404129 1.129287087 0.009839044 0.013927954 -
24 c.9249A>T 9477A>T p.K3083N - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.508026915 1.075678821 - 0.546473793 -
24 c.9256+69T>C IVS24+69T>C - - - Parsons et al 2019 - - - 0.02 0.02 - 0.88 - - - 0.88 -
24 c.9257-1G>C
  (Reported 2 times)		 IVS24-1G>C - 0.966 4 - Likely pathogenic Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.34 0.00 0.34 1 1 47.5 1.16 - 55.1 -
24 c.9257-10dup IVS24-10insT - 0.017750811 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.04 - - 0.374837062 1.157084926 - 0.433718315 -
24 c.9257-19_9257-17delinsCC IVS24-19del3insCC - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.580175601 1.024615386 - 0.594456847 -
24 c.9257-18C>A IVS24-18C>A - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.212664236 1.157084926 - 1.403155509 -
24 c.9257-17T>A IVS24-17T>A - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.584249011 1.024615386 - 0.598630526 -
24 c.9257-11_9257-10dup IVS24-10insTT - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.922253472 1.024615386 - 0.944955097 -
24 c.9257-10del IVS24-10delT - 0.020291664 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.04 - - 0.409208949 1.214750213 - 0.497086657 -
24 c.9257-8C>T IVS24-8C>T - 0.008967839 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - 0.9523 0.17033623 1.338845527 - 0.217175728 -
24 c.9257-1G>A IVS24-1G>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 0.9986 1.08 - - - 1.078488 -
24 c.9257-2A>G IVS24-2A>G - - - Parsons et al 2019 - - 0.34 0.02 0.34 - 1.77 - - - 1.77 -
25 c.9263C>T 9491C>T p.A3088V 0.007148903 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.227219131 1.024615386 - 0.232812218 -
25 c.9271G>A 9499G>A p.V3091I - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.07 - - - 1.07 -
25 c.9275A>G
  (Reported 2 times)		 9503A>G p.Y3092C 0.0250 2 - Likely not pathogenic or of little clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.81 0.01 0.00 0.81 1.023 - 0.00457 1.2883 - 0.00602 -
25 c.9285C>G 9513C>G p.D3095E 0.9775 4 - Likely pathogenic Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.66 0.01 0.00 0.66 0.427 - 31.623 1.66 - 22.415 -
25 c.9286G>A 9514G>A p.E3096K 0.009799918 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.32 - - - 0.32 -
25 c.9292T>C 9520T>C p.Y3098H 0.00001 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. 0.03 0.01 0.00 0.03 5.012 - 0.00035 0.195 - 0.00034 -
25 c.9296A>G 9524A>G p.N3099S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.72 - - - 0.72 -
801 - 900
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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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