ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.2828T>C (p.Ile943Thr)

dbSNP: rs2137490364
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268730 SCV002550311 uncertain significance not specified 2023-08-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002434615 SCV002746708 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-23 criteria provided, single submitter clinical testing The p.I943T variant (also known as c.2828T>C), located in coding exon 10 of the BRCA2 gene, results from a T to C substitution at nucleotide position 2828. The isoleucine at codon 943 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.
University of Washington Department of Laboratory Medicine, University of Washington RCV002434615 SCV003850167 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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