ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9440C>T (p.Ser3147Phe)

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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 RCV004952539 SCV005552079 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-01 criteria provided, single submitter clinical testing The p.S3147F variant (also known as c.9440C>T), located in coding exon 24 of the BRCA2 gene, results from a C to T substitution at nucleotide position 9440. The serine at codon 3147 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 deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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