ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.10087A>G (p.Ile3363Val) (rs55881945)

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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 RCV000132086 SCV000187150 likely benign Hereditary cancer-predisposing syndrome 2017-07-14 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Other data supporting benign classification
Color RCV000132086 SCV000688686 likely benign Hereditary cancer-predisposing syndrome 2017-03-20 criteria provided, single submitter clinical testing
Counsyl RCV000662584 SCV000785207 uncertain significance Breast-ovarian cancer, familial 2 2017-06-02 criteria provided, single submitter clinical testing
GeneDx RCV000074508 SCV000108593 likely benign not specified 2017-06-28 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Invitae RCV000206119 SCV000259934 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-08-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 3363 of the BRCA2 protein (p.Ile3363Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs55881945, ExAC 0.03%). This variant has been reported in an individual affected with breast cancer (PMID: 22034289). ClinVar contains an entry for this variant (Variation ID: 89039). 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 valine amino acid residue is also 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. 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.

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