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LOVD - Variant listings for BRCA2

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1 c.(?_-227)_67+?del Exon 1-2del - 0.997329073 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.96 13.338828 1.1664 - - - 15.55840898 Deletion spans exons 1 and 2, including the translation initiation methionine
1 c.-39-36C>G IVS1-36C>G - - - Parsons et al 2019 - - - 0.02 0.02 1.7036 1.06 - - - 1.805816 -
1 c.-39-26G>A IVS1-26G>A - - - Parsons et al 2019 - - - 0.02 0.02 0.9939069 - - - - 0.9939069 -
1 c.-39-14C>T IVS1-14C>T - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.580175601 1.024615386 - 0.594456847 -
1 c.-39-12_-39-10del IVS1-12del3 - 0.639466064 3 - Uncertain Parsons et al 2019 - - - 0.02 0.34 - 1.06 2.255368045 1.440167753 - 3.44299483 -
1 c.-39-5del IVS1-5delT - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.917713029 1.129287087 - 1.036361473 -
2 c.-34T>C 5'UTR195T>C - 0.007950928 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.02 - - 0.365088485 1.075678821 - 0.392717951 -
2 c.-15A>C 5'UTR214A>C - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.935148591 2.074083157 - 1.939575942 -
2 c.-14T>C 5'UTR215T>C - - - Parsons et al 2019 - - - 0.02 0.02 - - 1.623716074 1.049836689 - 1.704636706 -
2 c.-12T>C 5'UTR217T>C - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.789804038 1.049836689 - 0.829165256 -
2 c.-9T>C 5'UTR220T>C - - - Parsons et al 2019 - - - 0.02 0.02 3.650000079 - 0.114977673 1.405569136 - 0.58987311 -
2 c.2T>G 230T>G p.M1R - - Parsons et al 2019 - - - 0.02 0.96 - 0.72 - - - 0.72 Translation initiation methionine site
2 c.3del 231delG - - - Parsons et al 2019 - - - 0.02 0.96 - - 1.687482976 1.024615386 - 1.72902102 -
2 c.3G>A
  (Reported 2 times)		 231G>A p.M1I 0.981 4 - Likely pathogenic Thomassen M et al., Breast Cancer Res Treat. 2012 Apr, 132(3):1009-23. Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.02 0.00 0.96 2.0 - - 1.07 - 2.14 Translation initiation methionine site
2 c.5C>T 233C>T p.P2L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.653337939 1.024615386 - 0.669420104 -
2 c.26C>T 254C>T p.P9L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.827519458 1.024615386 - 1.872504555 -
2 c.34T>G 262T>G p.F12V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.845804261 1.024615386 - 0.866624059 -
2 c.52C>T 280C>T p.R18C 0.012984563 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.29 - 0.02 0.29 0.0366 0.88 - - - 0.032208 -
2 c.53G>A 281G>A p.R18H 0.00035 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 0.0199 0.5 - 1.1329 - 0.01127 -
2 c.66A>T 294A>T p.A22A - - Parsons et al 2019 - 0.02 0.97 0.02 0.97 - - 0.9357424 1.024615386 - 0.95877606 -
2 c.67+1del IVS2+1delG - 0.835013418 3 - Uncertain Parsons et al 2019 - - - 0.02 0.97 0.14321728 - 1.066689585 1.024615386 - 0.156528834 -
2 c.67+1G>A IVS2+1G>A - - - Parsons et al 2019 - - 0.97 0.02 0.97 2.247537589 1.11453872 0.414387178 1.244651749 - 1.291981476 -
2 c.67+1G>T IVS2+1G>T - 0.995728813 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 3.906318754 1.191016 1.476165189 1.049836689 - 7.210111485 -
2 c.67+2T>C IVS2+2T>C - 0.985499065 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 1.861252833 1.129287087 - 2.101888789 -
2 c.67+3A>G IVS2+3A>G - - - Parsons et al 2019 - - 0.97 0.02 0.97 - 0.89 - - - 0.89 -
Exon Hide Exon column Descending
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2 c.67+4T>C IVS2+4T>C - 0.10793887 3 - Uncertain Parsons et al 2019 - - 0.04 0.02 0.04 - - 2.699677429 1.075678821 - 2.903985834 -
2 c.67+62T>G IVS2+62T>G - - - Parsons et al 2019 - - - 0.02 0.02 - 0.671616 - - - 0.671616 -
2 c.67+82C>G IVS2+82C>G - 7.8219E-136 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - - - 0.02 0.02 - 1.46786E-18 - - 2.6111E-116 3.8327e-134 -
3 c.73G>A 301G>A p.G25R - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.516123134 1.024615386 - 0.528827704 -
3 c.116C>T 344C>T p.A39V 0.0022093 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.03 - 0.02 0.02 - - 0.098439155 1.102157073 - 0.108495411 -
3 c.125A>G 353A>G p.Y42C 0.00000 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 0.00000067 - - 8.9E-11 - 5.96300E-17 -
3 c.164A>G 392A>G p.N55S 0.051552781 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.47601001 1.075678821 - 2.663391529 -
3 c.167A>C 395A>C p.N56T 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 0.0011 - 0.10715 1.28825 - 0.00015 -
3 c.189A>C 417A>C p.K63N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.024615386 - 0.504091433 -
3 c.221T>C 449T>C p.L74P - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.31833358 1.024615386 - 1.35078487 -
3 c.223G>C 451G>C p.A75P 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 0.00309 - 0.0003 0.48978 - 4.54026E-7 -
3 c.240A>G 468A>G p.I80M - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.666795446 1.102157073 - 0.734913316 -
3 c.241T>G 469T>G p.F81V 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 -
3 c.263T>G 491T>G p.L88R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.538217837 1.102157073 - 1.695357668 -
3 c.277T>C 505T>C p.S93P - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.31833358 1.024615386 - 1.35078487 -
3 c.316+5G>A IVS3+5G>A - 0.744 3 - Uncertain Thomassen M et al., Breast Cancer Res Treat. 2012 Apr, 132(3):1009-23. Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.34 0.00 0.34 3.16 - 1.51 1.18 - 5.64 -
3 c.317-10A>G IVS3-10A>G - 0.015161009 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.311636266 1.18556701 - 0.369465677 -
4 c.322A>C 550A>C p.N108H 0.001214835 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.040389394 1.475618079 - 0.059599319 -
4 c.341A>G 569A>G p.H114R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.561752801 1.049836689 - 0.5897487 -
4 c.343A>G 571A>G p.K115E 0.005959537 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.266539172 1.102157073 - 0.293768033 -
4 c.352C>T 580C>T p.R118C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.049836689 - 0.516499838 -
4 c.353G>A 581G>A p.R118H - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.0104 2.007534 0.508026915 1.075678821 - 1.108474193 -
4 c.379G>T 607G>T p.A127S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.508026915 1.049836689 - 0.533345294 -
4 c.425G>A 653G>A p.S142N - - Parsons et al 2019 - 0.02 0.34 0.02 0.34 1.5539 0.89 - - - 1.382971 -
4 c.425G>T 653G>T p.S142I 0.920515566 3 - Uncertain Parsons et al 2019 - 0.02 0.97 0.02 0.97 0.3187769 1.1236 - - - 0.358177725 -
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Pathology LR Hide Pathology LR column Descending
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4 c.425+33A>G IVS4+33A>G - - - Parsons et al 2019 - - - 0.02 0.02 - 0.7832 - 1.14 - 0.892848 -
4 c.426-22G>T IVS4-22G>T - - - Parsons et al 2019 - - - 0.02 0.02 - - - 1.024 - 1.024 -
4 c.426-17G>T IVS4-17G>T - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.042930986 1.024615386 - 1.068603135 -
4 c.426-12_426-8del IVS4-12del5 - 0.065461868 3 - Uncertain Parsons et al 2019 - - - 0.02 0.34 0.2856 0.4761 - - - 0.13597416 -
4 c.426-12G>A IVS4-12G>A - 0.168552141 3 - Uncertain Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.374837062 1.049836689 - 0.3935177 -
5 c.433_435del 661del3 - 0.09772304 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - - 4.061473146 1.306681054 - 5.307050013 -
5 c.437T>C 665T>C p.L146P 0.009010061 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.434804153 1.024615386 - 0.445507025 -
5 c.440A>G 668A>G p.Q147R 0.000602552 1 - Not pathogenic or of no clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 1.2789 1.1449 0.177284374 0.113809233 - 0.02954283 -
5 c.440A>T 668A>T p.Q147L 0.009494194 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.02 0.5353 1.06 0.76950495 1.075678821 - 0.469674676 -
5 c.442T>C 670T>C p.C148R 0.044447888 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - 1.8939 1.146341562 1.049836689 - 2.27925454 -
5 c.455C>A 683C>A p.T152K 0.052514452 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 2.650583274 1.024615386 - 2.715828403 -
5 c.464G>T 692G>T p.R155I - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.899 - - - - 1.899 -
5 c.467A>G 695A>G p.D156G - - Parsons et al 2019 - 0.02 - 0.02 0.02 0.295199976 - 1.146341562 1.62636286 - 0.550361194 -
5 c.473C>T 701C>T p.S158L 0.537103686 3 - Uncertain Parsons et al 2019 - 0.02 0.34 0.02 0.34 - - 1.766162686 1.275289324 - 2.252368419 -
5 c.475+1G>T IVS5+1G>T - 0.998543659 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.8997 - 9.189283103 1.214750213 - 21.20575004 -
5 c.475+4del IVS5+4delT - 0.779887134 3 - Uncertain Parsons et al 2019 - - - 0.02 0.34 - - 6.393942527 1.075678821 - 6.87782856 -
5 c.476-9dup IVS5-9insT - 0.098973992 3 - Uncertain Parsons et al 2019 - - - 0.02 0.04 - - 2.511153476 1.049836689 - 2.63630105 -
5 c.476-9del IVS5-9delT - 0.100618519 3 - Uncertain Parsons et al 2019 - - - 0.02 0.04 - - 2.557546115 1.049836689 - 2.685005744 -
5 c.476-8A>C IVS5-8A>C - 0.019555738 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.467198739 1.024615386 - 0.478699017 -
5 c.476-3C>T IVS5-3C>T - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.801601969 1.075678821 - 0.862266261 -
5 c.476-1G>A IVS5-1G>A - 0.988886359 4 - Likely Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 1.2313 - 2.181297031 1.024615386 - 2.751943801 -
6 c.476-2A>G IVS5-2A>G - 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 - 18.20 1.17 - 21.38 -
6 c.483T>G 711T>G p.C161W - - Parsons et al 2019 - 0.02 - 0.02 0.3 - 1.06 - - - 1.06 -
6 c.502C>A 730C>A p.P168T 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. 0.02 0.01 0.00 0.02 1 - 0.01905 0.08128 - 0.00155 -
6 c.502C>G 730C>G p.P168A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.024615386 - 0.504091433 -
Exon Hide Exon column Descending
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Protein change Hide Protein change column Descending
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IARC Class Hide IARC Class 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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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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6 c.506A>G 734A>G p.K169R 0.038818567 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - 0.02 - 0.02 0.3 - 1.07 0.963157845 0.09143862 - 0.094234712 -
6 c.516G>A 744G>A p.K172K - - Parsons et al 2019 - 0.02 0.34 0.02 0.34 - - 0.879637931 1.049836689 - 0.923476173 -
6 c.516G>T 744G>T p.K172N - - Parsons et al 2019 - 0.02 0.97 0.02 0.97 - - 1.662621915 1.049836689 - 1.745481485 -
6 c.516+1G>T IVS6+1G>T - 0.810717384 3 - Uncertain Parsons et al 2019 - - 0.97 0.02 0.97 0.270340093 0.49000196 - - - 0.132467176 -
6 c.516+7A>G IVS6+7A>G - 0.198808006 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - - 11.86676865 1.024615386 - 12.15887374 -
6 c.516+10C>T IVS6+10C>T - 0.044780252 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - - 2.241911433 1.024615386 - 2.297096948 -
6 c.516+14C>T IVS6+14C>T - - - Parsons et al 2019 - - - 0.02 0.02 0.6953 1.1236 - - - 0.78123908 -
6 c.516+18T>C IVS6+18T>C - - - Parsons et al 2019 - - - 0.02 0.02 - - - 1.024 - 1.024 -
6 c.517-16T>C IVS6-16T>C - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.823959877 1.024615386 - 0.844241967 -
6 c.517-11T>C IVS6-11T>C - 0.011391939 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.244895265 1.129287087 - 0.276557061 -
6 c.517-2A>G IVS6-2A>G - 0.999417675 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 3.496606341 3.821067378 3.115235012 1.275289324 - 53.08000753 -
7 c.559G>A 787G>A p.E187K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.19104548 1.049836689 - 1.250403243 -
7 c.581G>C 809G>C p.W194S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.212664236 1.024615386 - 1.242514434 -
7 c.631G>C 859G>C p.V211L - - Parsons et al 2019 - 0.02 0.97 0.02 0.97 - - 0.472727355 1.157084926 - 0.546985697 -
7 c.631+2T>G IVS7+2T>G - 0.998311237 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 22.51465722 0.81204768 - - - 18.28297516 -
7 c.631+7A>G IVS7+7A>G - - - Parsons et al 2019 - - - 0.02 0.02 0.9866 - - - - 0.9866 -
7 c.631+25C>T IVS7+25C>T - - - Parsons et al 2019 - - - 0.02 0.02 1.0157 0.9328 - - - 0.94744496 -
7 c.632-69T>C IVS7-69T>C - - - Parsons et al 2019 - - - 0.02 0.02 0.6589 1.6324 - - - 1.07558836 -
7 c.632-18_632-17del IVS7-18delTA - - - Parsons et al 2019 - - - 0.02 0.34 - - 0.95233238 1.049836689 - 0.999793472 -
8 c.632-16A>C
  (Reported 2 times)		 IVS7-16A>C - 0.011 2 - Likely not pathogenic or of little clinical significance Thomassen M et al., Breast Cancer Res Treat. 2012 Apr, 132(3):1009-23. Vallee MP et al., Human Mutation 37: 627-639, 2016 - 0.04 0.00 0.04 - - 0.22 1.20 - 0.27 -
7 c.632-10del IVS7-10delT - 0.013448635 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - - 0.02 0.04 - - 0.319307311 1.024615386 - 0.327167184 -
7 c.632-9A>G IVS7-9A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.845804261 1.049836689 - 0.887956344 -
7 c.632-3C>A IVS7-3C>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.494226238 1.049836689 - 0.518856837 -
7 c.632-3C>G IVS7-3C>G - 0.991879136 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 - - 3.598191516 1.049836689 - 3.777513466 -
7 c.632-2A>G IVS7-2A>G - 0.998675258 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 152.3272305 0.790591842 0.184412773 1.049836689 - 23.31538652 -
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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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