ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7112C>A (p.Ser2371Tyr)

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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 RCV004519912 SCV005029403 uncertain significance Hereditary cancer-predisposing syndrome 2023-12-29 criteria provided, single submitter clinical testing The p.S2371Y variant (also known as c.7112C>A), located in coding exon 13 of the BRCA2 gene, results from a C to A substitution at nucleotide position 7112. The serine at codon 2371 is replaced by tyrosine, an amino acid with dissimilar 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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