Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000690907 | SCV000818638 | pathogenic | Familial cancer of breast | 2023-10-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg145Glyfs*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 (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast cancer (Invitae). ClinVar contains an entry for this variant (Variation ID: 570117). For these reasons, this variant has been classified as Pathogenic. |
| Gene |
RCV001571355 | SCV001795811 | pathogenic | not provided | 2021-02-03 | criteria provided, single submitter | clinical testing | Frameshift 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 in large population cohorts (Lek et al., 2016); Observed in individuals with breast cancer undergoing multi-gene hereditary cancer testing (Sutcliffe 2020); This variant is associated with the following publications: (PMID: 33258288, 32805687) |
| Ambry Genetics | RCV002332426 | SCV002627868 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-12-23 | criteria provided, single submitter | clinical testing | The c.432delT pathogenic mutation, located in coding exon 2 of the CHEK2 gene, results from a deletion of one nucleotide at nucleotide position 432, causing a translational frameshift with a predicted alternate stop codon (p.R145Gfs*16). 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, |
RCV000690907 | SCV004044819 | pathogenic | Familial cancer of breast | 2023-06-23 | 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 | RCV000690907 | SCV004217744 | likely pathogenic | Familial cancer of breast | 2022-03-30 | criteria provided, single submitter | clinical testing |