ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6938G>T (p.Gly2313Val)

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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 RCV002362405 SCV002662079 uncertain significance Hereditary cancer-predisposing syndrome 2022-08-28 criteria provided, single submitter clinical testing The p.G2313V variant (also known as c.6938G>T) is located in coding exon 12 of the BRCA2 gene. The glycine at codon 2313 is replaced by valine, an amino acid with dissimilar properties. This change occurs in the first base pair of coding exon 12. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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