ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.9103T>C (p.Tyr3035His)

dbSNP: rs2137623691
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001558529 SCV001780495 uncertain significance not provided 2020-12-17 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 9331T>C
Ambry Genetics RCV003346615 SCV004052611 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-12 criteria provided, single submitter clinical testing The p.Y3035H variant (also known as c.9103T>C), located in coding exon 22 of the BRCA2 gene, results from a T to C substitution at nucleotide position 9103. The tyrosine at codon 3035 is replaced by histidine, an amino acid with similar 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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