Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mendelics | RCV000709598 | SCV000839471 | pathogenic | Familial cancer of breast | 2018-07-02 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000709598 | SCV001591590 | pathogenic | Familial cancer of breast | 2023-10-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln330*) 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 variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 584991). For these reasons, this variant has been classified as Pathogenic. |
Ambry Genetics | RCV002386280 | SCV002691269 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-04-26 | criteria provided, single submitter | clinical testing | The p.Q330* pathogenic mutation (also known as c.988C>T), located in coding exon 8 of the CHEK2 gene, results from a C to T substitution at nucleotide position 988. This changes the amino acid from a glutamine to a stop codon within coding exon 8. 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, |
RCV000709598 | SCV004043403 | pathogenic | Familial cancer of breast | 2023-06-27 | 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. |