ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7531T>A (p.Tyr2511Asn)

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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 RCV002393888 SCV002672012 uncertain significance Hereditary cancer-predisposing syndrome 2022-02-12 criteria provided, single submitter clinical testing The p.Y2511N variant (also known as c.7531T>A), located in coding exon 14 of the BRCA2 gene, results from a T to A substitution at nucleotide position 7531. The tyrosine at codon 2511 is replaced by asparagine, 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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