ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.309A>C (p.Leu103Phe)

dbSNP: rs1593882929
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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 RCV001018604 SCV001179860 uncertain significance Hereditary cancer-predisposing syndrome 2018-02-06 criteria provided, single submitter clinical testing The p.L103F variant (also known as c.309A>C), located in coding exon 2 of the BRCA2 gene, results from an A to C substitution at nucleotide position 309. The leucine at codon 103 is replaced by phenylalanine, 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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