ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3173A>G (p.Lys1058Arg) (rs431825302)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000724725 SCV000225162 uncertain significance not provided 2015-04-14 criteria provided, single submitter clinical testing
GeneDx RCV000173966 SCV000518279 likely benign not specified 2015-07-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV001084692 SCV000549786 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565270 SCV000661206 likely benign Hereditary cancer-predisposing syndrome 2018-07-10 criteria provided, single submitter clinical testing In silico models in agreement (benign);Co-occurence with mutation in same gene (phase unknown)
Integrated Genetics/Laboratory Corporation of America RCV000173966 SCV000694663 uncertain significance not specified 2018-05-08 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.3173A>G (p.Lys1058Arg) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. This frequency is not significantly higher than expected for a pathogenic variant in BRCA2 causing Hereditary Breast and Ovarian Cancer (2.9e-05 vs 0.00075), allowing no conclusion about variant significance. c.3173A>G has been reported in the literature in an individual affected with Breast and Ovarian Cancer (Nguyen-Dumont_2018). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. Multiple laboratories reported the variant with conflicting assessments (2 likely benign and 2 VUS). Based on the evidence outlined above, the variant was classified as uncertain significance.
Counsyl RCV000082907 SCV000785778 uncertain significance Breast-ovarian cancer, familial 2 2017-11-27 criteria provided, single submitter clinical testing
Color RCV000565270 SCV000906058 likely benign Hereditary cancer-predisposing syndrome 2018-10-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000724725 SCV001133743 uncertain significance not provided 2019-02-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082907 SCV000114981 benign Breast-ovarian cancer, familial 2 2012-05-03 no assertion criteria provided clinical testing

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