ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.828_830del (p.Ile276_Leu277delinsMet)

dbSNP: rs1569137812
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000687235 SCV000814791 uncertain significance Familial cancer of breast 2018-04-24 criteria provided, single submitter clinical testing This variant results in in-frame substitution of two amino acid residues at codons 276 and 277 of the CHEK2 protein (p.Ile276_Leu277delinsMet), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHEK2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. 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.

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