ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9410C>G (p.Thr3137Ser)

dbSNP: rs1235953183
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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 RCV001019327 SCV001180671 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-29 criteria provided, single submitter clinical testing The p.T3137S variant (also known as c.9410C>G), located in coding exon 24 of the BRCA2 gene, results from a C to G substitution at nucleotide position 9410. The threonine at codon 3137 is replaced by serine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. 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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