ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2184T>G (p.Asp728Glu)

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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 RCV003341757 SCV004052622 uncertain significance Hereditary cancer-predisposing syndrome 2023-08-22 criteria provided, single submitter clinical testing The p.D728E variant (also known as c.2184T>G), located in coding exon 10 of the BRCA2 gene, results from a T to G substitution at nucleotide position 2184. The aspartic acid at codon 728 is replaced by glutamic 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.
GeneDx RCV004763658 SCV005371243 uncertain significance not provided 2023-06-06 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Also known as 2412T>G; This variant is associated with the following publications: (PMID: 21084279)

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