ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8613G>C (p.Glu2871Asp)

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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 RCV002448022 SCV002676398 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-16 criteria provided, single submitter clinical testing The p.E2871D variant (also known as c.8613G>C), located in coding exon 19 of the BRCA2 gene, results from a G to C substitution at nucleotide position 8613. The glutamic acid at codon 2871 is replaced by aspartic acid, an amino acid with highly similar 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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