ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5312G>T (p.Gly1771Val) (rs80358755)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000580812 SCV000683695 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-06 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735563 SCV000863701 uncertain significance Breast and/or ovarian cancer 2015-10-15 no assertion criteria provided clinical testing
Invitae RCV000228622 SCV000283260 uncertain significance Hereditary breast and ovarian cancer syndrome 2015-11-09 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 1771 of the BRCA2 protein (p.Gly1771Val). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. However, 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"). In summary, this is a novel missense change with uncertain impact on protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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