If a premature termination codon is created within the second-to-last exon and is very close to the end of that exon, the protein transcription machinery (ribosomes) will still remove the exon-junction complex that connects the second-to-last exon to the last exon ensuring that the RNA won’t be degraded by the surveillance machinery. We treat premature termination codons within the last 15 codons of the second-to-last exon in the same way as if they were in the last exon; they are of uncertain significance without additional evidence.
Articles in this section
- Do you copy or base your interpretations from ClinVar?
- How often are Pathogenic and Likely Pathogenic variants detected by deletion/duplication (CNV) analysis?
- Why is this truncation in the second-to-last exon a VUS?
- How does Invitae find and evaluate literature evidence?
- Why is "Invitae" cited as a reference in the report?
- How does Invitae determine which transcript to use?
- How do you know which genes cause which diseases?
- Why do you only need one variant to determine whether a gene causes a specific disease?
- Can Invitae interpret a variant for me?
- What genome build does Invitae use?