ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)

dbSNP: rs876659519
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215015 SCV000276083 pathogenic Hereditary cancer-predisposing syndrome 2022-07-06 criteria provided, single submitter clinical testing The p.Y298* pathogenic mutation (also known as c.894T>G), located in coding exon 7 of the CHEK2 gene, results from a T to G substitution at nucleotide position 894. This changes the amino acid from a tyrosine to a stop codon within coding exon 7. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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.
Counsyl RCV000576520 SCV000677834 likely pathogenic Familial cancer of breast 2017-01-11 criteria provided, single submitter clinical testing
Invitae RCV000576520 SCV001381278 pathogenic Familial cancer of breast 2023-08-17 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 232048). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr298*) 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).
Myriad Genetics, Inc. RCV000576520 SCV004020095 pathogenic Familial cancer of breast 2023-03-08 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.
CZECANCA consortium RCV003128155 SCV003804361 pathogenic Uterine corpus cancer 2023-02-21 no assertion criteria provided clinical testing

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