ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7374C>A (p.Asn2458Lys)

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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 RCV002380376 SCV002675033 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-22 criteria provided, single submitter clinical testing The p.N2458K variant (also known as c.7374C>A), located in coding exon 13 of the BRCA2 gene, results from a C to A substitution at nucleotide position 7374. The asparagine at codon 2458 is replaced by lysine, 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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