Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001228603 | SCV001401008 | pathogenic | Familial cancer of breast | 2020-03-08 | 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 conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Lys131*) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. |
Ambry Genetics | RCV002356973 | SCV002622052 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-06-08 | criteria provided, single submitter | clinical testing | The p.K131* pathogenic mutation (also known as c.391A>T), located in coding exon 2 of the CHEK2 gene, results from an A to T substitution at nucleotide position 391. This changes the amino acid from a lysine to a stop codon within coding exon 2. 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, |
RCV001228603 | SCV004045169 | 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. |