Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000821423 | SCV000962178 | pathogenic | Familial cancer of breast | 2023-10-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln11*) 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: 663531). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV002442757 | SCV002612363 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-06-08 | criteria provided, single submitter | clinical testing | The p.Q11* pathogenic mutation (also known as c.31C>T), located in coding exon 1 of the CHEK2 gene, results from a C to T substitution at nucleotide position 31. 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. |
| Baylor Genetics | RCV000821423 | SCV004217756 | likely pathogenic | Familial cancer of breast | 2021-09-03 | criteria provided, single submitter | clinical testing |