ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.869T>G (p.Val290Gly)

dbSNP: rs587781431
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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 RCV000129323 SCV000184086 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-20 criteria provided, single submitter clinical testing The p.V290G variant (also known as c.869T>G), located in coding exon 9 of the BRCA2 gene, results from a T to G substitution at nucleotide position 869. The valine at codon 290 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000470406 SCV000549873 uncertain significance Hereditary breast ovarian cancer syndrome 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces valine with glycine at codon 290 of the BRCA2 protein (p.Val290Gly). The valine residue is weakly conserved and there is a moderate physicochemical difference between valine and glycine. 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 conditions. ClinVar contains an entry for this variant (Variation ID: 141009). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV000129323 SCV003848098 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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