ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.7352A>C (p.Asp2451Ala)

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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 RCV004520098 SCV005029482 uncertain significance Hereditary cancer-predisposing syndrome 2023-10-02 criteria provided, single submitter clinical testing The p.D2451A variant (also known as c.7352A>C), located in coding exon 13 of the BRCA2 gene, results from an A to C substitution at nucleotide position 7352. The aspartic acid at codon 2451 is replaced by alanine, an amino acid with dissimilar properties. This amino acid position is poorly 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.

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