ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1436A>T (p.Asp479Val)

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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 RCV002394277 SCV002701391 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-12 criteria provided, single submitter clinical testing The p.D479V variant (also known as c.1436A>T), located in coding exon 9 of the BRCA2 gene, results from an A to T substitution at nucleotide position 1436. The aspartic acid at codon 479 is replaced by valine, an amino acid with highly dissimilar properties. This amino acid position is well conserved in available vertebrate species. 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 RCV002394277 SCV003851387 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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