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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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Posterior P Hide Posterior P column Descending
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Key Observational Reference Hide Key Observational 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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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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Disease Hide Disease column Descending
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- 23 c.9059C>G 9287C>G p.S3020C - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.935469836 1.024615386 - 1.983112172 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 23 c.9097A>C 9325A>C p.T3033P - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 0.9499756 1.024615386 - 0.973359616 - - United States:Salt Lake City DNA SEQ - 1
- 23 c.9101A>G 9329A>G p.Q3034R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.845804261 1.075678821 - 0.90981373 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 23 c.9116C>G 9344C>G p.P3039R - - Parsons et al 2019 - 0.03 0.97 0.02 0.97 0.8288 - - - - 0.8288 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
?/? 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 23 c.9117+9C>T IVS23+9C>T - - - Parsons et al 2019 - - - 0.02 0.02 - 1.07 0.671611784 1.033092037 - 0.742405361 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9155G>A 9383G>A p.R3052Q 0.008431864 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.66 - 0.02 0.66 0.396585787 5.10422528 0.058209553 0.048590003 0.765117 0.004380624 - - United States:Salt Lake City DNA SEQ - 1
-/? 24 c.9155G>A 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 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9161C>A 9389C>A p.P3054H - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.610481679 1.024615386 - 0.625508921 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9172A>G 9400A>G p.S3058G - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.580175601 1.024615386 - 0.594456847 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9187C>T 9415C>T p.P3063S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.666795446 1.102157073 - 0.734913316 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9190G>A 9418G>A p.D3064N - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.432795921 1.214750213 - 0.525738937 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
-/? 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 - - 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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- 24 c.9239C>G 9467C>G p.S3080C - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.491981128 1.049836689 - 0.516499838 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9249A>T 9477A>T p.K3083N - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.508026915 1.075678821 - 0.546473793 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9256+69T>C IVS24+69T>C - - - Parsons et al 2019 - - - 0.02 0.02 - 0.88 - - - 0.88 - - United States:Salt Lake City DNA SEQ - 1
?/? 24 c.9257-1G>C 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 - - United States:Salt Lake City DNA SEQ - 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 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9257-19_9257-17delinsCC IVS24-19del3insCC - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.580175601 1.024615386 - 0.594456847 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9257-18C>A IVS24-18C>A - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.212664236 1.157084926 - 1.403155509 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9257-17T>A IVS24-17T>A - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.584249011 1.024615386 - 0.598630526 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9257-11_9257-10dup IVS24-10insTT - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.922253472 1.024615386 - 0.944955097 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9257-1G>C IVS24-1G>C - 0.965446935 4 - Likely Pathogenic Parsons et al 2019 - - 0.34 0.02 0.34 1.292905831 0.7632 47.50467539 1.157084926 - 54.23839711 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9257-1G>A IVS24-1G>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 0.9986 1.08 - - - 1.078488 - - United States:Salt Lake City DNA SEQ - 1
- 24 c.9257-2A>G IVS24-2A>G - - - Parsons et al 2019 - - 0.34 0.02 0.34 - 1.77 - - - 1.77 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9271G>A 9499G>A p.V3091I - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.07 - - - 1.07 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9275A>G 9503A>G p.Y3092C 0.031992835 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.81 - 0.02 0.81 1.160082 1.1342 0.004620146 1.275289324 - 0.007752517 - - United States:Salt Lake City DNA SEQ - 1
-/? 25 c.9275A>G 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
-/? 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 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9296A>G 9524A>G p.N3099S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.72 - - - 0.72 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9302T>G 9530T>G p.L3101R - - Parsons et al 2019 - 0.66 - 0.02 0.66 1.115722 3.62296 0.190988951 1.129287087 - 0.871830667 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9307A>G 9535A>G p.I3103V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.85584018 1.024615386 - 0.876907016 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9331G>A 9559G>A p.E3111K - - Parsons et al 2019 - 0.29 - 0.02 0.02 - - 0.801601969 1.049836689 - 0.841551156 - - 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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- 25 c.9338T>C 9566T>C p.I3113T - - Parsons et al 2019 - 0.03 - 0.02 0.02 - - 0.79756992 1.102157073 - 0.879047328 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9350A>C 9578A>C p.H3117P 0.007478721 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.02 - - 0.35169149 1.049836689 - 0.36921863 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9353T>C 9581T>C p.M3118T - - Parsons et al 2019 - 0.03 - 0.02 0.02 - - 1.082639742 1.129287087 - 1.222611081 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9354G>A 9582G>A p.M3118I - - Parsons et al 2019 - 0.03 - 0.02 0.02 1.1341 1.06 - - - 1.202146 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9364G>A 9592G>A p.A3122T - - Parsons et al 2019 - 0.03 - 0.02 0.02 1.6672 1.77 0.516123134 1.075678821 - 1.638313129 - - United States:Salt Lake City DNA SEQ - 1
?/? 25 c.9364G>A 9592G>A p.A3122T 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 0.02 0.34 - - - - 0.34 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9365C>T 9593C>T p.A3122V - - Parsons et al 2019 - 0.03 - 0.02 0.02 - - 1.121890304 1.024615386 - 1.149506067 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9371A>T 9599A>T p.N3124I 0.999999994 5 - Pathogenic Parsons et al 2019 - 0.81 - 0.02 0.81 402919.0213 0.537895794 81.641417 2.074083157 - 36698863.68 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9385C>G 9613C>G p.P3129A - - Parsons et al 2019 - 0.03 - 0.02 0.02 - - 0.713600174 1.024615386 - 0.731165718 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9388G>A 9616G>A p.E3130K - - Parsons et al 2019 - 0.03 - 0.02 0.02 - - 1.082639742 1.024615386 - 1.109289337 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9401G>T 9629G>T p.G3134V - - Parsons et al 2019 - 0.03 - 0.02 0.02 - - 0.776322802 1.049836689 - 0.815012159 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9403C>T 9631C>T p.L3135F - - Parsons et al 2019 - 0.03 - 0.02 0.02 - - 1.119283975 1.049836689 - 1.175065382 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9425A>G 9653A>G p.D3142G 0.051139114 3 - Uncertain Parsons et al 2019 - 0.29 - 0.02 0.02 - - 2.515503874 1.049836689 - 2.640868257 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9434T>C 9662T>C p.V3145A 0.007498456 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.02 - - 0.352626545 1.049836689 - 0.370200284 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9454G>A 9682G>A p.E3152K 0.061611924 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.02 - - 2.84887901 1.129287087 - 3.217202278 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9458G>C 9686G>C p.G3153A 0.001466193 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.02 - 0.740166422 2.100245225 0.046283392 - 0.071948968 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9477C>A 9705C>A p.F3159L - - Parsons et al 2019 - 0.03 - 0.02 0.02 - 1.15 1.106616322 1.102157073 - 1.402614757 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9500A>C 9728A>C p.E3167A 0.016200436 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.29 0.04 0.02 0.04 - - 0.385718484 1.024615386 - 0.395213094 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9501+3A>T IVS25+3A>T - 4.85229E-07 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 1.40967E-05 0.073167114 0.362464414 2.519492999 - 0.000000941916 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9501+4A>G IVS25+4A>G - 0.003717912 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 0.0037 0.69 2.452255774 1.157084926 - 0.007244056 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9501+9A>C IVS25+9A>C - 1.31451E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 0.0198 - 0.33074082 0.098358586 - 0.000644118 - - United States:Salt Lake City DNA SEQ - 1
?/? 25 c.9501+3A>T IVS25+3A>T - 0.724 3 - Uncertain Whiley et al., Human Mutation 32: 678-687, 2011 Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.34 0.00 0.34 0.74 1.19 2.29 2.52 - 5.08 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9502-12T>G IVS25-12T>G - 3.99929E-07 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - 0.34 0.02 0.34 0.76769076 0.014379899 - - 7.03243E-05 0.000000776332 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9502-13C>G IVS25-13C>G - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.970464325 1.024615386 - 0.994352678 - - United States:Salt Lake City DNA SEQ - 1
- 25 c.9502-12T>C IVS25-12T>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 - 1.77 0.508026915 1.049836689 - 0.944021171 - - United States:Salt Lake City DNA SEQ - 1
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# Reported Hide # Reported column Descending
Ascending
- 25 c.9502-2A>C IVS25-2A>C - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 1.467331144 1.049836689 - 1.540458069 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9502_9507del 9730del6 - - - Parsons et al 2019 - - - 0.02 0.02 - 0.69 - - - 0.69 - - United States:Salt Lake City DNA SEQ - 1
-/? 26 c.9509A>G 9737A>G p.D3170G 0.00003 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 0.02 0.038 - 0.0288 1.175 - 0.00129 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9513_9515del 9741del3 - 0.00918693 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.432765896 1.049836689 - 0.454333515 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9542T>G 9770T>G p.M3181R 0.06326535 3 - Uncertain Parsons et al 2019 - 0.03 - 0.02 0.02 - - 3.229866257 1.024615386 - 3.30937066 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9547A>G 9775A>G p.I3183V - - Parsons et al 2019 - 0.03 - 0.02 0.02 - - 1.346203618 1.075678821 - 1.448082721 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9562G>A 9790G>A p.D3188N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.666795446 1.024615386 - 0.683208873 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9581C>A 9809C>A p.P3194Q 0.00106682 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - 0.88 1.137728684 0.052267236 - 0.052330021 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9583A>G 9811A>G p.T3195A 0.045581419 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.07 1.890148922 1.157084926 - 2.340157224 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9586A>G 9814A>G p.K3196E - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.16427967 2.459315474 1.479146305 1.440167753 - 0.860641491 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9611C>G 9839C>G p.T3204S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.31833358 1.049836689 - 1.38403496 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9616C>G 9844C>G p.Q3206E 0.070570288 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 3.294557205 1.129287087 - 3.720500908 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9632C>A 9860C>A p.T3211K - - Parsons et al 2019 - 0.02 - 0.02 0.3 - 1.54 0.984044871 1.102157073 - 1.670240901 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9634G>C 9862G>C p.G3212R - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.836176 0.4761 - - - 0.874203394 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9637A>G 9865A>G p.N3213D - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.732563877 1.075678821 - 0.788003447 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9647T>C 9875T>C p.L3216P - - Parsons et al 2019 - 0.02 0.04 0.02 0.04 0.9424 - - - - 0.9424 - - United States:Salt Lake City DNA SEQ - 1
- 26 c.9649-6dup IVS26-6insT - 0.011078181 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.04 - - 0.249939637 1.075678821 - 0.268854775 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9257-?_(*1_?)del Exon 25-27del - 0.997600567 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.81 31.4841 3.0976 - - - 97.52514816 - - United States:Salt Lake City DNA SEQ - 1
?/? 27 c.9649-20C>T IVS26-20C>T - 0.000 1 - Not pathogenic or of no clinical significance Easton DF et al., Am J Hum Genet, 81: 873-883, 2007. Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.04 0.00 0.04 3.39 - 0.05 1.95E-04 - 3.31E-05 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9677A>G 9905A>G p.Y3226C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.479763417 1.024615386 - 1.516188364 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9718G>A 9946G>A p.V3240I - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.13576589 1.049836689 - 1.192368701 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9728C>T 9956C>T p.P3243L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.06 1.517839033 1.129287087 - 1.816920581 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9763G>A 9964G>A p.G3255R 0.005165021 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.2544 - - - - 0.2544 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9770A>G 9998A>G p.K3257R 0.052395051 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.124468528 1.275289324 - 2.709312033 - - United States:Salt Lake City DNA SEQ - 1
- 27 c.9816T>G 10044T>G p.D3272E - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.625589957 1.024615386 - 1.66560448 - - United States:Salt Lake City DNA SEQ - 1
801 - 900
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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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