ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2750T>A (p.Val917Glu)

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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 RCV004517319 SCV005025680 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-18 criteria provided, single submitter clinical testing The p.V917E variant (also known as c.2750T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 2750. The valine at codon 917 is replaced by glutamic acid, an amino acid with dissimilar properties. This amino acid position is conserved. 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.

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