ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.494del (p.Gly165fs)

dbSNP: rs1569157733
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000709717 SCV000839941 pathogenic Familial cancer of breast 2017-05-25 criteria provided, single submitter clinical testing The c.622del (p.Asp208Ilefs*9) variant in the CHEK2 gene has not been observed in our patient cohort but has been reported in two individuals of East Asian descent from the ExAC database (http://exac.broadinstitute.org/variant/22-29115443-TC-T). This one bp deletion in exon 5 results in a frameshift and the creation of a premature stop codon. This variant is thus expected to result in a loss of function of the protein. This variant is thus classified as pathogenic.

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