Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001247249 | SCV001420658 | pathogenic | Familial cancer of breast | 2019-11-11 | 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 been observed in an individual with a personal or family history of breast and/or ovarian cancer (PMID: 29752822). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln100*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. |
Myriad Genetics, |
RCV001247249 | SCV004043478 | pathogenic | Familial cancer of breast | 2023-06-23 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |
Gene |
RCV003442813 | SCV004170170 | likely pathogenic | not provided | 2023-04-05 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Identified in individual(s) with breast cancer (Li et al., 2019); This variant is associated with the following publications: (PMID: 24713400, 21876083, 29752822, 34308104) |
Baylor Genetics | RCV001247249 | SCV004217691 | pathogenic | Familial cancer of breast | 2023-04-16 | criteria provided, single submitter | clinical testing |