ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.5085A>C (p.Glu1695Asp)

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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 RCV002351465 SCV002646022 uncertain significance Hereditary cancer-predisposing syndrome 2021-11-13 criteria provided, single submitter clinical testing The p.E1695D variant (also known as c.5085A>C), located in coding exon 10 of the BRCA2 gene, results from an A to C substitution at nucleotide position 5085. The glutamic acid at codon 1695 is replaced by aspartic acid, an amino acid with highly similar 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV002351465 SCV003846982 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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