ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8944_8946del (p.Lys2982del)

dbSNP: rs80359733
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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 RCV001812963 SCV001472681 uncertain significance not provided 2019-11-06 criteria provided, single submitter clinical testing The BRCA2 c.8944_8946delAAA; p.Lys2982del variant, to our knowledge, is not reported in the medical literature or gene specific databases. It is also absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. This variant deletes a single lysine residue leaving the rest of the protein in-frame. Due to limited information, the clinical significance of the p.Lys2982del variant is uncertain at this time.
Labcorp Genetics (formerly Invitae), Labcorp RCV002537944 SCV003308645 uncertain significance Hereditary breast ovarian cancer syndrome 2023-08-17 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 993907). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.8944_8946del, results in the deletion of 1 amino acid(s) of the BRCA2 protein (p.Lys2982del), but otherwise preserves the integrity of the reading frame.

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