ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.3374T>C (p.Phe1125Ser)

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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 RCV003293423 SCV004005465 uncertain significance Hereditary cancer-predisposing syndrome 2023-04-25 criteria provided, single submitter clinical testing The p.F1125S variant (also known as c.3374T>C), located in coding exon 10 of the BRCA2 gene, results from a T to C substitution at nucleotide position 3374. The phenylalanine at codon 1125 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is conserved. 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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