ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9059C>T (p.Ser3020Phe)

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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 RCV003293425 SCV004005473 uncertain significance Hereditary cancer-predisposing syndrome 2023-05-10 criteria provided, single submitter clinical testing The p.S3020F variant (also known as c.9059C>T), located in coding exon 22 of the BRCA2 gene, results from a C to T substitution at nucleotide position 9059. The serine at codon 3020 is replaced by phenylalanine, an amino acid with highly dissimilar properties. This amino acid position is not 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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