ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1407T>A (p.Asp469Glu)

dbSNP: rs1593892789
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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 RCV001011418 SCV001171738 uncertain significance Hereditary cancer-predisposing syndrome 2018-03-30 criteria provided, single submitter clinical testing The p.D469E variant (also known as c.1407T>A), located in coding exon 9 of the BRCA2 gene, results from a T to A substitution at nucleotide position 1407. The aspartic acid at codon 469 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV001011418 SCV003851363 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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