ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4819A>C (p.Ile1607Leu)

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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 RCV004522206 SCV005027475 uncertain significance Hereditary cancer-predisposing syndrome 2024-01-12 criteria provided, single submitter clinical testing The p.I1607L variant (also known as c.4819A>C), located in coding exon 10 of the BRCA2 gene, results from an A to C substitution at nucleotide position 4819. The isoleucine at codon 1607 is replaced by leucine, 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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