ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.725A>G (p.Lys242Arg)

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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 RCV002371140 SCV002671991 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-07 criteria provided, single submitter clinical testing The p.K242R variant (also known as c.725A>G), located in coding exon 8 of the BRCA2 gene, results from an A to G substitution at nucleotide position 725. The lysine at codon 242 is replaced by arginine, an amino acid with highly 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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