Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000525290 | SCV000633158 | pathogenic | Familial cancer of breast | 2020-11-25 | 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 not been reported in the literature in individuals with CHEK2-related disease. ClinVar contains an entry for this variant (Variation ID: 460818). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln83*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002431573 | SCV002731602 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-05-29 | criteria provided, single submitter | clinical testing | The p.Q83* pathogenic mutation (also known as c.247C>T), located in coding exon 1 of the CHEK2 gene, results from a C to T substitution at nucleotide position 247. This changes the amino acid from a glutamine to a stop codon within coding exon 1. 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, |
RCV000525290 | SCV004044288 | 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. |