ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1616_1627dup (p.Cys539_Val542dup)

dbSNP: rs1569101939
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000686693 SCV000814221 uncertain significance Familial cancer of breast 2018-05-07 criteria provided, single submitter clinical testing This variant, c.1616_1627dupGTGCTGCTGTGT, results in the insertion of 4 amino acids to the CHEK2 protein (p.Cys539_Val542dup), 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 duplicated 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.
Color Diagnostics, LLC DBA Color Health RCV001191646 SCV001359540 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-28 criteria provided, single submitter clinical testing

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