View unique variants   Search unique variants View all contents   Full database search Variant listing based on patient origin Database statistics   Switch gene
LOVD - Variant listings for BRCA2

920 public entries
entries per page

Path. Hide Path. column Descending
Ascending
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
Ascending
Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
Ascending
Disease Hide Disease column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
# Reported Hide # Reported column Descending
Ascending
- 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 - United States:Salt Lake City DNA SEQ - 1
- 1 c.-39-36C>G IVS1-36C>G - - - Parsons et al 2019 - - - 0.02 0.02 1.7036 1.06 - - - 1.805816 - - United States:Salt Lake City DNA SEQ - 1
- 1 c.-39-26G>A IVS1-26G>A - - - Parsons et al 2019 - - - 0.02 0.02 0.9939069 - - - - 0.9939069 - - United States:Salt Lake City DNA SEQ - 1
- 1 c.-39-14C>T IVS1-14C>T - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.580175601 1.024615386 - 0.594456847 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 1 c.-39-5del IVS1-5delT - - - Parsons et al 2019 - - - 0.02 0.04 - - 0.917713029 1.129287087 - 1.036361473 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.-15A>C 5'UTR214A>C - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.935148591 2.074083157 - 1.939575942 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.-14T>C 5'UTR215T>C - - - Parsons et al 2019 - - - 0.02 0.02 - - 1.623716074 1.049836689 - 1.704636706 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.-12T>C 5'UTR217T>C - - - Parsons et al 2019 - - - 0.02 0.02 - - 0.789804038 1.049836689 - 0.829165256 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.-9T>C 5'UTR220T>C - - - Parsons et al 2019 - - - 0.02 0.02 3.650000079 - 0.114977673 1.405569136 - 0.58987311 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.2T>G 230T>G p.M1R - - Parsons et al 2019 - - - 0.02 0.96 - 0.72 - - - 0.72 Translation initiation methionine site - United States:Salt Lake City DNA SEQ - 1
- 2 c.3del 231delG - - - Parsons et al 2019 - - - 0.02 0.96 - - 1.687482976 1.024615386 - 1.72902102 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.3G>A 231G>A p.M1I 0.999735509 5 - Pathogenic Parsons et al 2019 - - - 0.02 0.96 67.62110446 2.172628915 - 1.072 - 157.4934876 Translation initiation methionine site - United States:Salt Lake City DNA SEQ - 1
?/? 2 c.3G>A 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 - United States:Salt Lake City DNA SEQ - 1
- 2 c.5C>T 233C>T p.P2L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.653337939 1.024615386 - 0.669420104 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.26C>T 254C>T p.P9L - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.827519458 1.024615386 - 1.872504555 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.34T>G 262T>G p.F12V - - Parsons et al 2019 - 0.03 - 0.02 0.03 - - 0.845804261 1.024615386 - 0.866624059 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.67+3A>G IVS2+3A>G - - - Parsons et al 2019 - - 0.97 0.02 0.97 - 0.89 - - - 0.89 - - United States:Salt Lake City DNA SEQ - 1
Path. Hide Path. column Descending
Ascending
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
Ascending
Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
Ascending
Disease Hide Disease column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
# Reported Hide # Reported column Descending
Ascending
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 2 c.67+62T>G IVS2+62T>G - - - Parsons et al 2019 - - - 0.02 0.02 - 0.671616 - - - 0.671616 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 3 c.73G>A 301G>A p.G25R - - Parsons et al 2019 - 0.81 - 0.02 0.81 - - 0.516123134 1.024615386 - 0.528827704 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
?/? 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 3 c.189A>C 417A>C p.K63N - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.024615386 - 0.504091433 - - United States:Salt Lake City DNA SEQ - 1
- 3 c.221T>C 449T>C p.L74P - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.31833358 1.024615386 - 1.35078487 - - United States:Salt Lake City DNA SEQ - 1
- 3 c.240A>G 468A>G p.I80M - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.666795446 1.102157073 - 0.734913316 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 3 c.263T>G 491T>G p.L88R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.538217837 1.102157073 - 1.695357668 - - United States:Salt Lake City DNA SEQ - 1
- 3 c.277T>C 505T>C p.S93P - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.31833358 1.024615386 - 1.35078487 - - United States:Salt Lake City DNA SEQ - 1
?/? 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 4 c.341A>G 569A>G p.H114R - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.561752801 1.049836689 - 0.5897487 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 4 c.352C>T 580C>T p.R118C - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.049836689 - 0.516499838 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 4 c.379G>T 607G>T p.A127S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.508026915 1.049836689 - 0.533345294 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 4 c.425+33A>G IVS4+33A>G - - - Parsons et al 2019 - - - 0.02 0.02 - 0.7832 - 1.14 - 0.892848 - - United States:Salt Lake City DNA SEQ - 1
- 4 c.426-22G>T IVS4-22G>T - - - Parsons et al 2019 - - - 0.02 0.02 - - - 1.024 - 1.024 - - United States:Salt Lake City DNA SEQ - 1
Path. Hide Path. column Descending
Ascending
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
Ascending
Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
Ascending
Disease Hide Disease column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
# Reported Hide # Reported column Descending
Ascending
- 4 c.426-17G>T IVS4-17G>T - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 1.042930986 1.024615386 - 1.068603135 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 5 c.433_435del 661del3 - 0.09772304 3 - Uncertain Parsons et al 2019 - - - 0.02 0.02 - - 4.061473146 1.306681054 - 5.307050013 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 5 c.464G>T 692G>T p.R155I - - Parsons et al 2019 - 0.02 - 0.02 0.02 1.899 - - - - 1.899 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 5 c.475+4del IVS5+4delT - 0.779887134 3 - Uncertain Parsons et al 2019 - - - 0.02 0.34 - - 6.393942527 1.075678821 - 6.87782856 - - United States:Salt Lake City DNA SEQ - 1
- 5 c.476-9dup IVS5-9insT - 0.098973992 3 - Uncertain Parsons et al 2019 - - - 0.02 0.04 - - 2.511153476 1.049836689 - 2.63630105 - - United States:Salt Lake City DNA SEQ - 1
- 5 c.476-9del IVS5-9delT - 0.100618519 3 - Uncertain Parsons et al 2019 - - - 0.02 0.04 - - 2.557546115 1.049836689 - 2.685005744 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 5 c.476-3C>T IVS5-3C>T - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.801601969 1.075678821 - 0.862266261 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
?/? 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 - - United States:Salt Lake City DNA SEQ - 1
- 6 c.483T>G 711T>G p.C161W - - Parsons et al 2019 - 0.02 - 0.02 0.3 - 1.06 - - - 1.06 - - United States:Salt Lake City DNA SEQ - 1
- 6 c.502C>G 730C>G p.P168A - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 0.491981128 1.024615386 - 0.504091433 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
Path. Hide Path. column Descending
Ascending
Exon Hide Exon column Descending
Ascending
DNA change   Descending
Ascending
BIC DNA change Hide BIC DNA change column Descending
Ascending
Protein change Hide Protein change column Descending
Ascending
Posterior P Hide Posterior P column Descending
Ascending
IARC Class Hide IARC Class column Descending
Ascending
Key Observational Reference Hide Key Observational Reference column Descending
Ascending
Prior P reference Hide Prior P reference column Descending
Ascending
Missense analysis Prior P Hide Missense analysis Prior P column Descending
Ascending
Splicing prior P Hide Splicing prior P column Descending
Ascending
Other Prior P Hide Other Prior P column Descending
Ascending
Combined prior P Hide Combined prior P column Descending
Ascending
Segregation LR Hide Segregation LR column Descending
Ascending
Pathology LR Hide Pathology LR column Descending
Ascending
Sum Family LR Hide Sum Family LR column Descending
Ascending
Co-occurrence LR Hide Co-occurrence LR column Descending
Ascending
case-control LR Hide case-control LR column Descending
Ascending
Product of LRs Hide Product of LRs column Descending
Ascending
Comments Hide Comments column Descending
Ascending
Disease Hide Disease column Descending
Ascending
Reference Hide Reference column Descending
Ascending
Template Hide Template column Descending
Ascending
Technique Hide Technique column Descending
Ascending
Remarks Hide Remarks column Descending
Ascending
# Reported Hide # Reported column Descending
Ascending
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 6 c.516+14C>T IVS6+14C>T - - - Parsons et al 2019 - - - 0.02 0.02 0.6953 1.1236 - - - 0.78123908 - - United States:Salt Lake City DNA SEQ - 1
- 6 c.516+18T>C IVS6+18T>C - - - Parsons et al 2019 - - - 0.02 0.02 - - - 1.024 - 1.024 - - United States:Salt Lake City DNA SEQ - 1
- 6 c.517-16T>C IVS6-16T>C - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.823959877 1.024615386 - 0.844241967 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.559G>A 787G>A p.E187K - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.19104548 1.049836689 - 1.250403243 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.581G>C 809G>C p.W194S - - Parsons et al 2019 - 0.02 - 0.02 0.02 - - 1.212664236 1.024615386 - 1.242514434 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.631+7A>G IVS7+7A>G - - - Parsons et al 2019 - - - 0.02 0.02 0.9866 - - - - 0.9866 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.631+25C>T IVS7+25C>T - - - Parsons et al 2019 - - - 0.02 0.02 1.0157 0.9328 - - - 0.94744496 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.632-69T>C IVS7-69T>C - - - Parsons et al 2019 - - - 0.02 0.02 0.6589 1.6324 - - - 1.07558836 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.632-18_632-17del IVS7-18delTA - - - Parsons et al 2019 - - - 0.02 0.34 - - 0.95233238 1.049836689 - 0.999793472 - - United States:Salt Lake City DNA SEQ - 1
?/? 8 c.632-16A>C 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.632-9A>G IVS7-9A>G - - - Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.845804261 1.049836689 - 0.887956344 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.632-3C>A IVS7-3C>A - - - Parsons et al 2019 - - 0.34 0.02 0.34 - - 0.494226238 1.049836689 - 0.518856837 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 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 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.632-1G>A IVS7-1G>A - 0.999853152 5 - Pathogenic Parsons et al 2019 - - 0.97 0.02 0.97 95.32615552 2.20904496 - - - 210.5797634 - - United States:Salt Lake City DNA SEQ - 1
- 7 c.632-16A>C IVS7-16A>C - 0.011116127 2 - Likely not pathogenic or of little clinical significance Parsons et al 2019 - - 0.04 0.02 0.04 - - 0.222853939 1.210595757 - 0.269786033 - - United States:Salt Lake City DNA SEQ - 1
- 8 c.663T>G 891T>G p.F221L 0.06609215 3 - Uncertain Parsons et al 2019 - 0.02 - 0.02 0.02 - - 3.223734841 1.075678821 - 3.467703294 - - United States:Salt Lake City DNA SEQ - 1
1 - 100
[<-] 1 2 3 4 5 6 ... [->] [>>]

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

  Powered by LOVD v.2.0 Build 22
Enabled modules: recaptcha, showmaxdbid, autoFill
©2004-2009 Leiden University Medical Center