ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2805T>A (p.Asp935Glu)

dbSNP: rs749138071
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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 RCV001016634 SCV001177607 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-27 criteria provided, single submitter clinical testing The p.D935E variant (also known as c.2805T>A), located in coding exon 10 of the BRCA2 gene, results from a T to A substitution at nucleotide position 2805. The aspartic acid at codon 935 is replaced by glutamic acid, an amino acid with highly similar 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV001016634 SCV003850152 likely benign Hereditary cancer-predisposing syndrome 2023-03-23 criteria provided, single submitter curation Missense variant in a coldspot region where missense variants are very unlikely to be pathogenic (PMID:31911673).

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