Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540634 | SCV000633119 | pathogenic | Familial cancer of breast | 2022-07-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 460796). This premature translational stop signal has been observed in individual(s) with cervical adenocarcinoma (PMID: 26556299). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln433*) 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). |
Ambry Genetics | RCV002384084 | SCV002695518 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-02-05 | criteria provided, single submitter | clinical testing | The p.Q433* pathogenic mutation (also known as c.1297C>T), located in coding exon 11 of the CHEK2 gene, results from a C to T substitution at nucleotide position 1297. This changes the amino acid from a glutamine to a stop codon within coding exon 11. 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, |
RCV000540634 | SCV004044685 | pathogenic | Familial cancer of breast | 2023-06-28 | 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. |
Baylor Genetics | RCV000540634 | SCV004217700 | pathogenic | Familial cancer of breast | 2023-02-16 | criteria provided, single submitter | clinical testing |