ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.631+7A>G (rs431825339)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000082956 SCV000489080 uncertain significance Breast-ovarian cancer, familial 2 2016-08-16 criteria provided, single submitter clinical testing
Invitae RCV000477537 SCV000560406 likely benign Hereditary breast and ovarian cancer syndrome 2019-12-31 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000499706 SCV000591700 uncertain significance not specified 2016-07-19 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000499706 SCV000694959 uncertain significance not specified 2019-06-10 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.631+7A>G alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 4/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant was absent in 248684 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.631+7A>G has been reported in the literature in an individual affected with breast cancer (Tung_2015). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. Co-occurrences with other pathogenic variant(s) have been reported (BRCA1 c.68_69delAG in an internal sample), providing supporting evidence for a benign role. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation (2 VUS, 1 likely benign). Based on the evidence outlined above, the variant was classified as uncertain significance.
Color RCV001182329 SCV001347759 uncertain significance Hereditary cancer-predisposing syndrome 2019-07-25 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000082956 SCV000115030 uncertain significance Breast-ovarian cancer, familial 2 2012-06-05 no assertion criteria provided clinical testing

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