ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2422G>A (p.Glu808Lys)

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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 RCV003187206 SCV003855551 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-11 criteria provided, single submitter clinical testing The p.E808K variant (also known as c.2422G>A), located in coding exon 10 of the BRCA2 gene, results from a G to A substitution at nucleotide position 2422. The glutamic acid at codon 808 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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