ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.76C>T (p.Pro26Ser)

dbSNP: rs2138703603
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Sema4, Sema4 RCV002257063 SCV002531879 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-19 criteria provided, single submitter curation
Ambry Genetics RCV002257063 SCV002670518 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-15 criteria provided, single submitter clinical testing The p.P26S variant (also known as c.76C>T), located in coding exon 2 of the BRCA2 gene, results from a C to T substitution at nucleotide position 76. The proline at codon 26 is replaced by serine, an amino acid with similar properties. This amino acid position is highly 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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