ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1451del (p.Pro484fs)

dbSNP: rs1555913078
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000572548 SCV000673246 pathogenic Hereditary cancer-predisposing syndrome 2021-09-07 criteria provided, single submitter clinical testing The c.1451delC pathogenic mutation, located in coding exon 12 of the CHEK2 gene, results from a deletion of one nucleotide at position 1451, causing a translational frameshift with a predicted alternate stop codon (p.P484Rfs*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.
Invitae RCV000812102 SCV000952406 pathogenic Familial cancer of breast 2018-07-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant has not been reported in the literature in individuals with CHEK2-related disease. ClinVar contains an entry for this variant (Variation ID: 485515). This sequence change creates a premature translational stop signal (p.Pro484Argfs*8) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency).
Myriad Genetics, Inc. RCV000812102 SCV004045258 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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