ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8935A>C (p.Lys2979Gln)

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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 RCV003341724 SCV004052510 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-17 criteria provided, single submitter clinical testing The p.K2979Q variant (also known as c.8935A>C), located in coding exon 21 of the BRCA2 gene, results from an A to C substitution at nucleotide position 8935. The lysine at codon 2979 is replaced by glutamine, an amino acid with 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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