ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8540A>C (p.Glu2847Ala)

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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 RCV003341727 SCV004052517 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-20 criteria provided, single submitter clinical testing The p.E2847A variant (also known as c.8540A>C), located in coding exon 19 of the BRCA2 gene, results from an A to C substitution at nucleotide position 8540. The glutamic acid at codon 2847 is replaced by alanine, an amino acid with dissimilar properties. 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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