ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7108A>G (p.Lys2370Glu)

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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 RCV003187235 SCV003853781 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-27 criteria provided, single submitter clinical testing The p.K2370E variant (also known as c.7108A>G), located in coding exon 13 of the BRCA2 gene, results from an A to G substitution at nucleotide position 7108. The lysine at codon 2370 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is not well 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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