ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8471G>A (p.Arg2824Lys)

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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 RCV002447607 SCV002677602 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-28 criteria provided, single submitter clinical testing The p.R2824K variant (also known as c.8471G>A), located in coding exon 18 of the BRCA2 gene, results from a G to A substitution at nucleotide position 8471. The arginine at codon 2824 is replaced by lysine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. 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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