ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)

dbSNP: rs587781592
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129647 SCV000184443 pathogenic Hereditary cancer-predisposing syndrome 2019-08-02 criteria provided, single submitter clinical testing The p.Q51* pathogenic mutation (also known as c.151C>T), located in coding exon 1 of the CHEK2 gene, results from a C to T substitution at nucleotide position 151. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This mutation was detected in one patient who underwent multi-gene panel testing (LaDuca H et al. PLoS ONE, 2017 Feb;12:e0170843). 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.
Invitae RCV000195906 SCV000253899 pathogenic Familial cancer of breast 2024-01-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln51*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant is present in population databases (rs587781592, gnomAD 0.0009%). This premature translational stop signal has been observed in individual(s) with kidney cancer (PMID: 34308104). ClinVar contains an entry for this variant (Variation ID: 141231). For these reasons, this variant has been classified as Pathogenic.
Color Diagnostics, LLC DBA Color Health RCV000129647 SCV001340974 pathogenic Hereditary cancer-predisposing syndrome 2020-09-18 criteria provided, single submitter clinical testing This variant changes 1 nucleotide in exon 2 of the CHEK2 gene, creating a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has been identified in 1/251402 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of CHEK2 function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003321510 SCV004026308 likely pathogenic not provided 2023-03-22 criteria provided, single submitter clinical testing PVS1, PM2_SUP
Myriad Genetics, Inc. RCV000195906 SCV004045028 pathogenic Familial cancer of breast 2023-06-22 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Baylor Genetics RCV000195906 SCV004217652 pathogenic Familial cancer of breast 2023-06-21 criteria provided, single submitter clinical testing

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