ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8473G>A (p.Ala2825Thr)

dbSNP: rs587782874
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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 RCV000776583 SCV000912197 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV000776583 SCV002680806 uncertain significance Hereditary cancer-predisposing syndrome 2021-06-24 criteria provided, single submitter clinical testing The p.A2825T variant (also known as c.8473G>A), located in coding exon 18 of the BRCA2 gene, results from a G to A substitution at nucleotide position 8473. The alanine at codon 2825 is replaced by threonine, an amino acid with 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.
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496471 SCV000587956 uncertain significance not specified 2014-01-31 no assertion criteria provided research

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