ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.699T>G (p.Phe233Leu)

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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 RCV003358277 SCV004052535 uncertain significance Hereditary cancer-predisposing syndrome 2023-07-14 criteria provided, single submitter clinical testing The p.F233L variant (also known as c.699T>G), located in coding exon 8 of the BRCA2 gene, results from a T to G substitution at nucleotide position 699. The phenylalanine at codon 233 is replaced by leucine, 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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