Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000570312 | SCV000666381 | pathogenic | Hereditary cancer-predisposing syndrome | 2021-01-20 | criteria provided, single submitter | clinical testing | The p.S210* pathogenic mutation (also known as c.629C>G), located in coding exon 4 of the CHEK2 gene, results from a C to G substitution at nucleotide position 629. This changes the amino acid from a serine to a stop codon within coding exon 4. 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. |
Invitae | RCV001858193 | SCV002162790 | pathogenic | Familial cancer of breast | 2021-05-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This nonsense change has been observed in individual(s) with breast cancer (PMID: 28724667). ClinVar contains an entry for this variant (Variation ID: 481728). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ser210*) 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). |
Myriad Genetics, |
RCV001858193 | SCV004043453 | pathogenic | Familial cancer of breast | 2023-06-26 | 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. |