ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.823del (p.Glu275fs)

dbSNP: rs769430546
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474863 SCV000550563 pathogenic Familial cancer of breast 2020-02-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu275Lysfs*3) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. 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: 410070).
Ambry Genetics RCV001027311 SCV001189850 pathogenic Hereditary cancer-predisposing syndrome 2019-08-28 criteria provided, single submitter clinical testing The c.823delG pathogenic mutation, located in coding exon 6 of the CHEK2 gene, results from a deletion of one nucleotide at nucleotide position 823, causing a translational frameshift with a predicted alternate stop codon (p.E275Kfs*3). In addition to the data presented in the literature, 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.
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV003320468 SCV004024651 pathogenic not provided 2023-08-15 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000474863 SCV004044487 pathogenic Familial cancer of breast 2023-06-27 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.
Baylor Genetics RCV000474863 SCV004217724 likely pathogenic Familial cancer of breast 2022-10-10 criteria provided, single submitter clinical testing

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