ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2635T>A (p.Ser879Thr)

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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 RCV003187198 SCV003855532 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-08 criteria provided, single submitter clinical testing The p.S879T variant (also known as c.2635T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 2635. The serine at codon 879 is replaced by threonine, an amino acid with similar properties. In one study, this variant was observed in 1/1525 unrelated patients who had BRCA1/2 genetic testing due to a personal and/or family history suspicious for Hereditary Breast and/or Ovarian Cancer syndrome (Caux-Moncoutier V et al. Hum Mutat, 2011 Mar;32:325-34). 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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