ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8275G>A (p.Val2759Met)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004952469 SCV005551904 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-16 criteria provided, single submitter clinical testing The p.V2759M variant (also known as c.8275G>A), located in coding exon 17 of the BRCA2 gene, results from a G to A substitution at nucleotide position 8275. The valine at codon 2759 is replaced by methionine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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