ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1164del (p.Thr389fs)

dbSNP: rs758677815
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneKor MSA RCV000708608 SCV000821727 likely pathogenic Hereditary cancer-predisposing syndrome 2020-01-01 criteria provided, single submitter clinical testing This variant is a single base pair deletion from exon 11 of the CHEK2 mRNA, causing a frameshift after codon 389 and this creates a premature translational stop signal 25 amino acid residues later. This is expected to result in an absent or disrupted protein product. Truncating variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant has been described in the international literature in an individual undergoing panel testing for hereditary syndrome (PMID: 31159747).
Ambry Genetics RCV000708608 SCV002632357 pathogenic Hereditary cancer-predisposing syndrome 2022-07-18 criteria provided, single submitter clinical testing The c.1164delC pathogenic mutation, located in coding exon 10 of the CHEK2 gene, results from a deletion of one nucleotide at nucleotide position 1164, causing a translational frameshift with a predicted alternate stop codon (p.T389Pfs*25). This alteration has been reported in 1/1197 individuals from Greece, Romania, and Turkey undergoing evaluation for inherited cancer predisposition (Tsaousis GN et al. BMC Cancer, 2019 Jun;19:535). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Myriad Genetics, Inc. RCV003336160 SCV004043029 pathogenic Familial cancer of breast 2023-06-28 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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