Rare Nonsense Mediated Decay-Escaping Stop Gained Variants
This is a blog post about rare Nonsense Mediated Decay-escaping stop gained variants. A stop-gained variant, also known as a nonsense mutation, is a type of genetic change where a single nucleotide substitution introduces a premature termination codon (PTC) within the coding sequence of a gene. This leads to early termination of translation, producing a truncated protein. Depending on the location of the PTC and the structure of the affected transcript, the variant may trigger nonsense-mediated decay (NMD) or escape it, making the biological impact isoform-specific and context-dependent. Nonsense-mediated decay–escaping (NMD-escaping) describes a situation where a transcript containing a premature termination codon (PTC) avoids degradation by the cell’s NMD pathway and remains stable enough to be translated. While NMD typically prevents the production of truncated proteins by degrading transcripts with early stop codons, escape occurs when the PTC is located in the last exon or w...