ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1046A>C (p.Lys349Thr)

dbSNP: rs587782140
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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 RCV000130696 SCV000185583 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-02 criteria provided, single submitter clinical testing The p.K349T variant (also known as c.1046A>C), located in coding exon 9 of the BRCA2 gene, results from an A to C substitution at nucleotide position 1046. The lysine at codon 349 is replaced by threonine, an amino acid with similar 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. 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 RCV000130696 SCV003849802 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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