ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)

dbSNP: rs768973809
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000709598 SCV000839471 pathogenic Familial cancer of breast 2018-07-02 criteria provided, single submitter clinical testing
Invitae RCV000709598 SCV001591590 pathogenic Familial cancer of breast 2023-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln330*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 584991). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV002386280 SCV002691269 pathogenic Hereditary cancer-predisposing syndrome 2022-04-26 criteria provided, single submitter clinical testing The p.Q330* pathogenic mutation (also known as c.988C>T), located in coding exon 8 of the CHEK2 gene, results from a C to T substitution at nucleotide position 988. This changes the amino acid from a glutamine to a stop codon within coding exon 8. 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. RCV000709598 SCV004043403 pathogenic Familial cancer of breast 2023-06-27 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.

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