ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.133del (p.Thr45fs)

dbSNP: rs1555932518
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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 RCV000572454 SCV000661740 pathogenic Hereditary cancer-predisposing syndrome 2016-04-26 criteria provided, single submitter clinical testing The c.133delA pathogenic mutation, located in coding exon 1 of the CHEK2 gene, results from a deletion of one nucleotide at nucleotide position 133, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).
Invitae RCV001386761 SCV001587109 pathogenic Familial cancer of breast 2021-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr45Argfs*16) 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 (ExAC 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: 479558). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV001386761 SCV004186654 pathogenic Familial cancer of breast 2023-07-19 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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