ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1892T>G (p.Phe631Cys)

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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 RCV004524213 SCV005025284 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-24 criteria provided, single submitter clinical testing The p.F631C variant (also known as c.1892T>G), located in coding exon 9 of the BRCA2 gene, results from a T to G substitution at nucleotide position 1892. The phenylalanine at codon 631 is replaced by cysteine, an amino acid with highly dissimilar 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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