ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9616C>G (p.Gln3206Glu) (rs80359233)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000217224 SCV000274873 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-25 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031838 SCV000147678 uncertain significance Breast-ovarian cancer, familial 2 2004-02-20 no assertion criteria provided clinical testing
Color RCV000217224 SCV000903512 likely benign Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing
Invitae RCV000045868 SCV000073881 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-04-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 3206 of the BRCA2 protein (p.Gln3206Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs80359233, ExAC 0.003%). This variant has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 38255). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Sharing Clinical Reports Project (SCRP) RCV000031838 SCV000054446 uncertain significance Breast-ovarian cancer, familial 2 2010-12-13 no assertion criteria provided clinical testing

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