ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.941A>T (p.Lys314Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV003120291 SCV003800511 uncertain significance not provided 2022-07-08 criteria provided, single submitter clinical testing The BRCA2 c.941A>T, p.Lys314Ile variant, to our knowledge, is not reported in the medical literature or gene specific databases. This variant is also absent from the Genome Aggregation Database, indicating it is not a common polymorphism. The lysine at codon 314 is moderately conserved, and computational analyses predict that this variant is neutral (REVEL: 0.13). Due to limited information, the clinical significance of this variant is uncertain at this time.
University of Washington Department of Laboratory Medicine, University of Washington RCV003157983 SCV003848148 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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