ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7791A>C (p.Lys2597Asn)

dbSNP: rs1555286470
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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 RCV000509820 SCV000607921 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-21 criteria provided, single submitter clinical testing The p.K2597N variant (also known as c.7791A>C), located in coding exon 15 of the BRCA2 gene, results from an A to C substitution at nucleotide position 7791. The lysine at codon 2597 is replaced by asparagine, an amino acid with 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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