Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000255399 | SCV000322556 | likely pathogenic | not provided | 2016-04-19 | criteria provided, single submitter | clinical testing | This variant is denoted CHEK2 c.1170C>A at the cDNA level and p.Tyr390Ter (Y390X) at the protein level. The substitution creates a nonsense variant, which changes a Tyrosine to a premature stop codon (TAC>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered likely pathogenic. |
Ambry Genetics | RCV002328750 | SCV002629558 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-10-24 | criteria provided, single submitter | clinical testing | The p.Y390* pathogenic mutation (also known as c.1170C>A), located in coding exon 10 of the CHEK2 gene, results from a C to A substitution at nucleotide position 1170. This changes the amino acid from a tyrosine to a stop codon within coding exon 10. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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, |
RCV003335295 | SCV004045112 | 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 | RCV003335295 | SCV004217603 | pathogenic | Familial cancer of breast | 2023-08-05 | criteria provided, single submitter | clinical testing |