ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3599G>T (p.Cys1200Phe)

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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 RCV003341760 SCV004052637 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-29 criteria provided, single submitter clinical testing The p.C1200F variant (also known as c.3599G>T), located in coding exon 10 of the BRCA2 gene, results from a G to T substitution at nucleotide position 3599. The cysteine at codon 1200 is replaced by phenylalanine, 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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