ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.9118G>A (p.Val3040Ile) (rs80359168)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000045729 SCV000073742 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-27 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 3040 of the BRCA2 protein (p.Val3040Ile). 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) and has not been reported in the literature in individuals with a BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 52760). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). An algorithm developed specifically for the BRCA2 gene (PMID: 19043619), suggests that this missense change is likely to be tolerated. These predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Breast Cancer Information Core (BIC) (BRCA2) RCV000114054 SCV000147550 uncertain significance Breast-ovarian cancer, familial 2 2001-10-29 no assertion criteria provided clinical testing

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