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LOVD - Variant listings for BRCA2

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17 c.7964A>G 8192A>G p.Q2655R - - Parsons et al 2019 - 0.66 - 0.02 0.66 0.529138898 1.24584768 - - - 0.659226469 -
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 -
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 -
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 -
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 -
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 -
17 c.7977-15T>G IVS17-15T>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.082639742 1.024615386 - 1.109289337 -
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 -
18 c.7985C>A 8213C>A p.T2662K - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.565976745 1.102157073 - 0.623795272 -
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 -
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 -
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 -
18 c.7992T>G 8220T>G p.I2664M - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.133553295 1.024615386 - 1.161456147 -
18 c.7994A>G
  (Reported 2 times)		 8222A>G p.D2665G 0.0183 2 - Likely not pathogenic or of little clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.81 0.01 0.00 0.81 0.0021 1.2 - 1.733 - 0.00437 -
18 c.8009C>T
  (Reported 2 times)		 8237C>T p.S2670L 0.5002 3 - Uncertain Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.29 0.01 0.00 0.29 2 1 - 1.225 - 2.45 -
18 c.8011G>T 8239G>T p.A2671S - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 1.249955187 1.024615386 - 1.280723316 -
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 -
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 -
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 -
18 c.8032A>G 8260A>G p.R2678G - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 0.785763889 1.024615386 - 0.80510577 -
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 -
18 c.8036A>G 8264A>G p.D2679G - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.579160422 1.102157073 - 0.638325755 -
18 c.8039A>G 8267A>G p.D2680G - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.801601969 1.049836689 - 0.841551156 -
18 c.8042C>G
  (Reported 2 times)		 8270C>G p.T2681R 0.1206 3 - Uncertain Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.03 - 0.892 4.97 - - 4.43324 -
18 c.8051A>G 8279A>G p.K2684R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.173388514 1.049836689 - 1.231866312 -
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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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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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18 c.8057T>C 8285T>C p.L2686P - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 1.701629425 1.024615386 - 1.743515689 -
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 -
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 -
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 -
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 -
18 c.8134G>A 8362G>A p.D2712N - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.922253472 1.075678821 - 0.992048528 -
18 c.8135A>T 8363A>T p.D2712V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.066689585 1.102157073 - 1.17565947 -
18 c.8138C>A 8366C>A p.T2713N - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.588608958 1.049836689 - 1.667779968 -
18 c.8141A>G 8369A>G p.Q2714R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.62046407 1.049836689 - 0.651385944 -
18 c.8149G>T 8377G>T p.A2717S 0.00000 1 - Not pathogenic or of no clinical significance Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.03 0.1211 1 - 1.28E-03 - 0.00016 -
18 c.8156T>C 8384T>C p.I2719T - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.508026915 1.024615386 - 0.520532193 -
18 c.8157T>G 8385T>G p.I2719M - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.907743458 1.024615386 - 0.930087913 -
18 c.8162T>A 8390T>A p.L2721H 0.1752 3 - Uncertain Spearman AD et al., J Clin Oncol, 26:5393-5400, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.29 0.01 0.00 0.29 - - 0.52 - - 0.52 -
18 c.8165C>G 8393C>G p.T2722R 0.9975 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 0.01 0.00 0.81 10.715 - 6.918 1.259 - 93.3251 -
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 -
18 c.8167G>C 8395G>C p.D2723H 1.0000 5 - Definitely pathogenic Goldgar et al., AJHG 75: 535-544, 2004. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.81 0.01 0.00 0.81 13731 - - 2 - 2.74620E+4 -
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 -
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 -
18 c.8187G>T 8415G>T p.K2729N 0.00005 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 0.04169 - 0.00617 6.30957 - 0.00162 -
18 c.8191C>G 8419C>G p.Q2731E - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.953713744 1.024615386 - 0.977189775 -
18 c.8206C>G 8434C>G p.L2736V - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.500012027 1.024615386 - 0.512320016 -
18 c.8212G>A 8440G>A p.A2738T - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.082639742 1.024615386 - 1.109289337 -
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 -
18 c.8229_8243del 8457del15 - 0.918470115 3 - Uncertain Parsons et al 2019 - - - 0.02 0.81 - - 2.397581004 1.102157073 - 2.64251086 -
18 c.8243G>A 8471G>A p.G2748D 1.0000 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 0.01 0.00 0.81 6.761 - 257.04 1.445 - 2511.19 -
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Missense analysis Prior P Hide Missense analysis 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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Co-occurrence LR Hide Co-occurrence LR column Descending
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18 c.8249_8251del 8477del3 - - - Parsons et al 2019 - - - 0.02 0.81 - 1.007512 0.580175601 1.075678821 - 0.628770715 -
18 c.8254A>T 8482A>T p.I2752F 0.010754887 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.334834862 1.049836689 - 0.351521923 -
18 c.8255T>A 8483T>A p.I2752N - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.5268 - - - - 1.5268 -
18 c.8308G>A
  (Reported 2 times)		 8536G>A p.A2770T 0.0150 2 - Likely not pathogenic or of little clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.03 0.41 1.2 - 1 - 0.492 -
18 c.8309C>A 8537C>A p.A2770D - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.907743458 1.049836689 - 0.952982386 -
18 c.8323A>G 8551A>G p.M2775V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.623051427 1.024615386 - 0.638388078 -
18 c.8324T>C 8552T>C p.M2775T 0.014182651 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.443087685 1.049836689 - 0.465169708 -
18 c.8331+1G>A IVS18+1G>A - 0.989036504 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 2.723026628 1.024615386 - 2.790054978 -
18 c.8331+1G>T IVS18+1G>T - 0.985310009 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.172 1.77 - - - 2.07444 -
18 c.8331+2T>C IVS18+2T>C - 0.85934908 3 - Uncertain Parsons et al 2019 - - 0.97 0.02 0.97 0.567967269 0.66 0.491981128 1.024615386 - 0.188962907 -
18 c.8331+16C>G IVS18+16C>G - 0.001201696 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - 0.184275908 - - 0.319922071 0.05895393 -
18 c.8332-13T>C IVS18-13T>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 1.499287799 1.024615386 - 1.536193346 -
19 c.8342A>T 8570A>T p.N2781I 0.627059345 3 - Uncertain Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.366652694 1.075678821 - 0.394400537 -
19 c.8350C>T 8578C>T p.R2784W 0.8365 3 - Uncertain 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 - - 0.851 1.41 - 1.19991 -
19 c.8351G>A 8579G>A p.R2784Q 1.69404E-05 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.66 - 0.02 0.66 0.000106872 1.134894587 1.480815593 0.048590003 - 0.00000872701 Two functional assays report that this variant has a complete functional impact (Mesman et al 2018, Hart et al 2018).
19 c.8356G>A 8584G>A p.A2786T - - Parsons et al 2019 - 0.03 - 0.02 0.03 - 1.06 0.580175601 1.075678821 - 0.661527563 -
19 c.8356G>C 8584G>C p.A2786P - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.353124142 1.049836689 - 1.420559368 -
19 c.8359C>T 8587C>T p.R2787C - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.561876016 1.18556701 - 0.666141669 -
19 c.8360G>A 8588G>A p.R2787H - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.9948 0.6549 1.24792346 1.049836689 - 1.711528144 -
19 c.8362T>C 8590T>C p.W2788R - - Parsons et al 2019 - 0.29 - 0.02 0.3 - - 0.731690901 1.024615386 - 0.749701754 -
19 c.8363G>C 8591G>C p.W2788S - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 1.066689585 1.024615386 - 1.09294656 -
19 c.8386C>T 8614C>T p.P2796S 0.003798709 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - 0.37 0.309781167 1.075678821 - 0.123293265 -
19 c.8417C>T 8645C>T p.S2806L - - Parsons et al 2019 - 0.29 - 0.02 0.29 0.8672 - - - - 0.8672 -
19 c.8421G>T 8649G>T p.S2807S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - - 1.025 - 1.025 -
19 c.8428A>G 8656A>G p.S2810G 0.003949435 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.113527132 1.129287087 - 0.128204724 -
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19 c.8432A>G 8660A>G p.D2811G 0.013123908 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.399731529 1.075678821 - 0.429982739 -
19 c.8438G>A 8666G>A p.G2813E - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.766838466 1.049836689 - 0.805055155 -
19 c.8444T>G 8672T>G p.V2815G 0.487440238 3 - Uncertain Parsons et al 2019 - 0.66 - 0.02 0.66 - - 0.478135484 1.024615386 - 0.489904974 -
19 c.8455G>A 8683G>A p.D2819N - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.70265866 1.024615386 - 0.719954874 -
19 c.8464_8466del 8692del3 - 0.483468071 3 - Uncertain Parsons et al 2019 - - - 0.02 0.66 - - 0.470592211 1.024615386 - 0.482176019 -
19 c.8486A>G 8714A>G p.Q2829R 0.933371967 3 - Uncertain Parsons et al 2019 - 0.03 0.34 0.02 0.34 14.29500979 1.902297 - - - 27.19335423 -
19 c.8487G>A 8715G>A p.Q2829Q - - Parsons et al 2019 - 0.02 0.34 0.02 0.34 0.9985 - 1.106616322 1.049836689 - 1.160023766 -
19 c.8487+1G>A IVS19+1G>A - 0.999 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 1 13.18 1.59 - 20.89 -
19 c.8487+4T>C IVS19+4T>C - 0.00975981 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.230861316 1.024615386 - 0.236544056 -
19 c.8488-19G>A IVS19-19G>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.845804261 1.049836689 - 0.887956344 -
19 c.8488-1G>A IVS19-1G>A - 0.992712204 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 3.730545463 1.129287087 - 4.212856817 -
20 c.8503T>C 8731T>C p.S2835P 0.000863314 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.10565456 1.06 0.249459481 - - 0.027937924 -
20 c.8507C>G 8735C>G p.S2836C 0.076378791 3 - Uncertain Parsons et al 2019 - 0.29 - 0.02 0.29 0.191 1.06 - - - 0.20246 -
20 c.8515T>C 8743T>C p.Y2839H - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.963486766 1.024615386 - 0.987203364 -
20 c.8518A>G 8746A>G p.I2840V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.845804261 1.102157073 - 0.932209148 -
20 c.8525G>A 8753G>A p.R2842H 0.00026 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. 0.29 0.01 0.00 0.29 0.07586 - 0.14125 0.05888 - 0.00063 -
20 c.8567A>C 8795A>C p.E2856A 0.0398 2 - Likely not pathogenic or of little clinical significance Chenevix-Trench, G. et al., Cancer Research 66: 2019-2027, 2006. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.03 0.01 0.00 0.03 1.05 1.2 - 1.064 - 1.34064 -
20 c.8572C>A 8800C>A p.Q2858K 0.005118984 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.150945301 1.102157073 - 0.166365431 -
20 c.8573A>G
  (Reported 2 times)		 8801A>G p.Q2858R 0.0187 2 - Likely not pathogenic or of little clinical significance Spurdle AB et al., J Clin Oncol, 26: 1657-1663, 2008. Tavtigian, S.V. et al., Journal of Medical Genetics 43: 295-305, 2006. 0.03 0.01 0.00 0.03 0.938 0.5 - 1.3158 - 0.61711 -
20 c.8591C>T 8819C>T p.A2864V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.975545041 1.049836689 - 1.024162976 -
20 c.8593T>G
  (Reported 2 times)		 8821T>G p.L2865V 0.2443 3 - Uncertain Farrugia DJ et al., Cancer Research 68:3523-3531, 2008. Tavtigian et al., Human Mutation 29: 1342-1354, 2008. 0.29 0.01 0.00 0.29 - - 0.776 1.02 - 0.79152 -
20 c.8599A>C 8827A>C p.T2867P 0.007877847 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.244551939 1.049836689 - 0.256739597 -
20 c.8618T>G 8846T>G p.F2873C - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 1.480743853 1.049836689 - 1.554539223 -
20 c.8632+1G>A IVS20+1G>A - 0.99809348 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 21.9304 0.7383 - - - 16.19121432 -
20 c.8632+15A>G IVS20+15A>G - 0.003870674 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 0.1904 - - - - 0.1904 -
701 - 800
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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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