ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.10136A>C (p.Tyr3379Ser)

dbSNP: rs1412762465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001016955 SCV001177966 uncertain significance Hereditary cancer-predisposing syndrome 2018-11-05 criteria provided, single submitter clinical testing The p.Y3379S variant (also known as c.10136A>C), located in coding exon 26 of the BRCA2 gene, results from an A to C substitution at nucleotide position 10136. The tyrosine at codon 3379 is replaced by serine, an amino acid with dissimilar properties. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689956 SCV005185656 uncertain significance not specified 2024-05-16 criteria provided, single submitter clinical testing

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