ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.2491G>A (p.Val831Ile) (rs397507287)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000221646 SCV000276726 uncertain significance Hereditary cancer-predisposing syndrome 2016-01-04 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000031369 SCV000146057 uncertain significance Breast-ovarian cancer, familial 2 1999-12-30 no assertion criteria provided clinical testing
Counsyl RCV000031369 SCV000488241 uncertain significance Breast-ovarian cancer, familial 2 2016-02-02 criteria provided, single submitter clinical testing
Invitae RCV000204111 SCV000260892 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-10-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 831 of the BRCA2 protein (p.Val831Ile). The valine residue is weakly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant was reported in individuals affected with breast cancer and prostate cancer (PMID: 11802209, 21952622). This variant has been reported in individuals in the Breast Cancer Information Core database (PMID: 10923033) and has an entry in ClinVar (Variation ID: 37788). It is also known as 2719A>G in the literature. 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. In summary, this is a rare missense change that is not predicted to affect protein function. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.
Mendelics RCV000204111 SCV000838773 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031369 SCV000053974 uncertain significance Breast-ovarian cancer, familial 2 2009-08-24 no assertion criteria provided clinical testing

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