ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9476T>G (p.Phe3159Cys)

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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 RCV002374060 SCV002686929 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-11 criteria provided, single submitter clinical testing The p.F3159C variant (also known as c.9476T>G), located in coding exon 24 of the BRCA2 gene, results from a T to G substitution at nucleotide position 9476. The phenylalanine at codon 3159 is replaced by cysteine, 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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