Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000556192 | SCV000633200 | pathogenic | Familial cancer of breast | 2023-12-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu193Lysfs*4) 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 present in population databases (rs775167943, gnomAD 0.006%). 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: 460844). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002358485 | SCV002653093 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-09-24 | criteria provided, single submitter | clinical testing | The c.577_578delCT pathogenic mutation, located in coding exon 3 of the CHEK2 gene, results from a deletion of two nucleotides at nucleotide positions 577 to 578, causing a translational frameshift with a predicted alternate stop codon (p.L193Kfs*4). 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, |
RCV000556192 | SCV004044191 | pathogenic | Familial cancer of breast | 2023-06-26 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |