ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1182_1187del (p.Glu394_Leu396delinsAsp)

dbSNP: rs2052557170
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230485 SCV001402966 uncertain significance Familial cancer of breast 2019-11-04 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. This variant has not been reported in the literature in individuals with CHEK2-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1182_1187del, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the CHEK2 protein (p.Glu394_Leu396delinsAsp).

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