ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2056C>A (p.Leu686Ile)

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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 RCV003182490 SCV003855479 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-08 criteria provided, single submitter clinical testing The p.L686I variant (also known as c.2056C>A), located in coding exon 10 of the BRCA2 gene, results from a C to A substitution at nucleotide position 2056. The leucine at codon 686 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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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