ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.451G>A (p.Val151Ile) (rs397507335)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000561223 SCV000668747 uncertain significance Hereditary cancer-predisposing syndrome 2017-01-25 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence,In silico models in agreement (benign)
Invitae RCV000685146 SCV000812619 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-06-14 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 151 of the BRCA2 protein (p.Val151Ile). 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 has not been reported in the literature in individuals with BRCA2-related disease. ClinVar contains an entry for this variant (Variation ID: 37908). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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) RCV000031489 SCV000054094 uncertain significance Breast-ovarian cancer, familial 2 2009-12-23 no assertion criteria provided clinical testing

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