Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001011667 | SCV001172014 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-05-31 | criteria provided, single submitter | clinical testing | The c.1455dupG pathogenic mutation, located in coding exon 12 of the CHEK2 gene, results from a duplication of G at nucleotide position 1455, causing a translational frameshift with a predicted alternate stop codon (p.L486Afs*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. |
Cancer Genomics Group, |
RCV001030620 | SCV001193554 | likely pathogenic | Hereditary breast ovarian cancer syndrome | 2019-05-01 | criteria provided, single submitter | research | |
Invitae | RCV002551747 | SCV003315234 | pathogenic | Familial cancer of breast | 2022-10-05 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 819258). This premature translational stop signal has been observed in individual(s) with CHEK2-related conditions (PMID: 32566746). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Leu486Alafs*4) 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, |
RCV002551747 | SCV004043815 | pathogenic | Familial cancer of breast | 2023-06-28 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |