ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1134del (p.Ser379fs)

dbSNP: rs1569114113
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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 RCV000709718 SCV000839942 pathogenic Familial cancer of breast 2017-06-02 criteria provided, single submitter clinical testing The c.1263del (p.Ser422Valfs*15) variant in the CHEK2 gene has been detected in a case control study for breast cancer [PMID 21244692]. This variant was detected in 1/1,303 cases and none of the 1,109 unaffected female controls. This variant was also detected in an individual with prostate cancer and two family members [PMID 24556621]. However, the segregation was not clear: one sibling was affected with prostate cancer but was negative for the variant. This variant has been reported in six individuals from the ExAC database (http://exac.broadinstitute.org/variant/22-29091226-TA-T). This one bp deletion in exon 12 results in a frameshift and the creation of a premature stop codon. This variant is expected to result in a loss of function of the protein and thus is classified as pathogenic.

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