ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8383T>G (p.Phe2795Val)

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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 RCV002434831 SCV002678749 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-30 criteria provided, single submitter clinical testing The p.F2795V variant (also known as c.8383T>G), located in coding exon 18 of the BRCA2 gene, results from a T to G substitution at nucleotide position 8383. The phenylalanine at codon 2795 is replaced by valine, an amino acid with highly 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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