Mutational Signatures (v3.5 - November 2025)
RNA-SBS3 · GRCh37 · COSMIC v103
Mutational profile
Mutational profile using 192-channels. This classification is defined by using the 192-channel for the tri-nucleotide context of every possible point nucleotide change on an RNA molecule. Because RNA molecules are single-stranded, we can infer the exact nucleotide change, thus resulting in the 192 channel, unlike DNA single base substitutions, where the strandedness of the nucleotide change cannot always be inferred.
Proposed aetiology
Unknown.
Comments
Consisted mainly of A>G and T>C transitions without obvious aetiology.
Acceptance criteria
| Background | Identification study | First included in COSMIC | |
|---|---|---|---|
| Martinez-Ruiz et al. 2023 Nature | v3.4 | ||
| Identification | NGS technique | Different variant callers | Multiple sequencing centres |
| RNA-seq/WES | No | No | |
| Technical validation | Validated in orthogonal techniques | Replicated in additional studies | Extended context enrichment |
| Yes | No | - | |
| Proposed aetiology | Mutational process | Support | |
| Unknown | Unknown | ||
| Experimental validation | Experimental study | Species | |
| - | - | ||
Summary of the technical and experimental evidence available in the scientific literature regarding the validation of the mutational signature.
Tissue distribution
Found in non-small cell lung cancer (NSCLC) tumours from patients in the TRACERx study.