Total submissions: 5
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, |
RCV003320468 | SCV004024651 | pathogenic | not provided | 2023-08-15 | criteria provided, single submitter | clinical testing | |
Myriad Genetics, |
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 |