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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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Protein change Hide Protein 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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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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- 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 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8255T>A 8483T>A p.I2752N - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.5268 - - - - 1.5268 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8308G>A 8536G>A p.A2770T 0.000138692 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.0039 1.15 - 1 - 0.004485 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8309C>A 8537C>A p.A2770D - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.907743458 1.049836689 - 0.952982386 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8323A>G 8551A>G p.M2775V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.623051427 1.024615386 - 0.638388078 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 18 c.8332-13T>C IVS18-13T>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 1.499287799 1.024615386 - 1.536193346 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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). - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8356G>C 8584G>C p.A2786P - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.353124142 1.049836689 - 1.420559368 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8359C>T 8587C>T p.R2787C - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.561876016 1.18556701 - 0.666141669 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8362T>C 8590T>C p.W2788R - - Parsons et al 2019 - 0.29 - 0.02 0.3 - - 0.731690901 1.024615386 - 0.749701754 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8363G>C 8591G>C p.W2788S - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 1.066689585 1.024615386 - 1.09294656 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8417C>T 8645C>T p.S2806L - - Parsons et al 2019 - 0.29 - 0.02 0.29 0.8672 - - - - 0.8672 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8421G>T 8649G>T p.S2807S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - - 1.025 - 1.025 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8438G>A 8666G>A p.G2813E - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.766838466 1.049836689 - 0.805055155 - - 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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- 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 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8455G>A 8683G>A p.D2819N - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.70265866 1.024615386 - 0.719954874 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8464_8466del 8692del3 - 0.483468071 3 - Uncertain Parsons et al 2019 - - - 0.02 0.66 - - 0.470592211 1.024615386 - 0.482176019 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
?/? 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 19 c.8488-19G>A IVS19-19G>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.845804261 1.049836689 - 0.887956344 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 20 c.8515T>C 8743T>C p.Y2839H - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.963486766 1.024615386 - 0.987203364 - - United States:Salt Lake City DNA SEQ - 1
- 20 c.8518A>G 8746A>G p.I2840V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.845804261 1.102157073 - 0.932209148 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 20 c.8573A>G 8801A>G p.Q2858R 0.003236428 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.938 0.89 0.334311989 1.440167753 0.261195911 0.104984275 - - United States:Salt Lake City DNA SEQ - 1
- 20 c.8591C>T 8819C>T p.A2864V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.975545041 1.049836689 - 1.024162976 - - United States:Salt Lake City DNA SEQ - 1
- 20 c.8593T>G 8821T>G p.L2865V - - Parsons et al 2019 - 0.29 - 0.02 0.29 - - 0.776322802 1.024615386 - 0.795432287 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 20 c.8618T>G 8846T>G p.F2873C - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 1.480743853 1.049836689 - 1.554539223 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 20 c.8633-4T>A IVS20-4T>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.975526615 1.024615386 - 0.999539579 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
?/? 21 c.8633-16C>G 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 - - United States:Salt Lake City DNA SEQ - 1
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- 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 - - United States:Salt Lake City DNA SEQ - 1
- 20 c.8633-16C>G IVS20-16C>G - 0.003179581 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.34 0.17 - 0.019354694 1.88183995 - 0.006191814 - - United States:Salt Lake City DNA SEQ - 1
- 21 c.8641A>G 8869A>G p.T2881A - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.0157 - - - - 1.0157 - - United States:Salt Lake City DNA SEQ - 1
- 21 c.8647C>T 8875C>T p.P2883S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.845804261 1.18556701 - 1.002757629 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 21 c.8663G>C 8891G>C p.R2888P - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.508026915 1.024615386 - 0.520532193 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 21 c.8732C>G 8960C>G p.A2911G - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.57979563 1.049836689 - 0.608690724 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 21 c.8734G>A 8962G>A p.A2912T 0.00035066 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.0106 1.07 - - - 0.011342 - - United States:Salt Lake City DNA SEQ - 1
?/? 21 c.8734G>A 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 - - United States:Salt Lake City DNA SEQ - 1
- 21 c.8754+3G>C IVS21+3G>C - - - Parsons et al 2019 - - 0.34 0.02 0.34 0.925564652 - - 1.024 - 0.947778203 - - United States:Salt Lake City DNA SEQ - 1
- 21 c.8754+4A>G IVS21+4A>G - 0.958963534 4 - Likely Pathogenic Parsons et al 2019 - - 0.34 0.02 0.34 4.867689341 3.1329 2.221760804 1.338845527 - 45.36251854 - - United States:Salt Lake City DNA SEQ - 1
- 21 c.8754+5G>T IVS21+5G>T - - - Parsons et al 2019 - - 0.97 0.02 0.97 - - 1.370262746 1.102157073 - 1.510244777 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
?/? 21 c.8754+4A>G 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 - - United States:Salt Lake City DNA SEQ - 1
- 21 c.8755-19A>G IVS21-19A>G - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 1.08845195 1.049836689 - 1.142696791 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8782G>T 9010G>T p.A2928S - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.31833358 1.102157073 - 1.453010679 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8786T>G 9014T>G p.L2929W - - Parsons et al 2019 - 0.66 - 0.02 0.66 - - 1.000023538 1.024615386 - 1.024639503 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
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- 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 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8834A>G 9062A>G p.Q2945R - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.833926132 1.049836689 - 1.925322937 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8839G>A 9067G>A p.E2947K - - Parsons et al 2019 - 0.03 - 0.02 0.03 1.21 - - - - 1.21 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8844T>G 9072T>G p.I2948M - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.491981128 1.024615386 - 0.504091433 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8846G>A 9074G>A p.R2949K - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.71977202 1.024615386 - 0.737489486 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8893G>C 9121G>C p.D2965H - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 1.066689585 1.075678821 - 1.147415395 - - United States:Salt Lake City DNA SEQ - 1
-/? 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8944A>C 9172A>C p.K2982Q - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.80684549 1.075678821 - 0.867906605 - - United States:Salt Lake City DNA SEQ - 1
?/? 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 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8953+98T>C IVS22+98T>C - - - Parsons et al 2019 - - - 0.02 0.02 1.8089 0.72 - - - 1.302408 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8954-5_8954-2del IVS22-5del4 - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.714957389 1.214750213 - 0.86849464 - - United States:Salt Lake City DNA SEQ - 1
- 22 c.8954-6A>G IVS22-6A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.467331144 1.024615386 - 1.503450066 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 23 c.8975_9100del 9201del126 - 0.986217044 4 - Likely Pathogenic Parsons et al 2019 - - - 0.02 0.81 - - 13.48499732 1.244651749 - 16.7841255 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 23 c.9038C>T 9266C>T p.T3013I 1.79968E-06 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.03 - 0.02 0.03 0.000483696 0.120302544 - - - 0.0000581898 - - United States:Salt Lake City DNA SEQ - 1
?/? 23 c.9038C>T 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 23 c.9052A>G 9280A>G p.S3018G - - Parsons et al 2019 - 0.03 - 0.02 0.64 - - 1.202698098 1.075678821 - 1.293716873 - - United States:Salt Lake City DNA SEQ - 1
- 23 c.9052_9057del 9267del6 - - - Parsons et al 2019 - - - 0.02 0.81 - - 0.519002227 1.129287087 - 0.586102513 - - United States:Salt Lake City DNA SEQ - 1
701 - 800
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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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