ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1994C>A (p.Thr665Lys)

dbSNP: rs587781917
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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 RCV000130260 SCV000185104 uncertain significance Hereditary cancer-predisposing syndrome 2014-01-21 criteria provided, single submitter clinical testing The p.T665K variant (also known as c.1994C>A or2222C>A), located in coding exon 10 of the BRCA2 gene, results from a C to A substitution at nucleotide position 1994. The threonine at codon 665 is replaced by lysine, an amino acid with a few similar properties. This variant was not reported in population based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. Based on protein sequence alignment, 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 p.T665K remains unclear.
University of Washington Department of Laboratory Medicine, University of Washington RCV000130260 SCV003846432 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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