ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8728A>G (p.Asn2910Asp)

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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 RCV002373486 SCV002685812 uncertain significance Hereditary cancer-predisposing syndrome 2021-03-31 criteria provided, single submitter clinical testing The p.N2910D variant (also known as c.8728A>G), located in coding exon 20 of the BRCA2 gene, results from an A to G substitution at nucleotide position 8728. The asparagine at codon 2910 is replaced by aspartic acid, an amino acid with highly similar 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.

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