ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4723G>T (p.Asp1575Tyr)

dbSNP: rs587782013
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001184081 SCV001349977 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-11 criteria provided, single submitter clinical testing
University of Washington Department of Laboratory Medicine, University of Washington RCV001184081 SCV003852047 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).
Ambry Genetics RCV001184081 SCV005548584 uncertain significance Hereditary cancer-predisposing syndrome 2024-10-09 criteria provided, single submitter clinical testing The p.D1575Y variant (also known as c.4723G>T), located in coding exon 10 of the BRCA2 gene, results from a G to T substitution at nucleotide position 4723. The aspartic acid at codon 1575 is replaced by tyrosine, an amino acid with highly dissimilar 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. Based on the available evidence, the clinical significance of this variant remains unclear.

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