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Version 2 Signatures
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Mutational Signatures (v3.4 - October 2023)

RNA-SBS2 · GRCh37 · COSMIC v99

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

Consisted mainly of C>T transitions at TpC sites relating to RNA editing activity of APOBEC3A.

Acceptance criteria

Supporting evidence for mutational signature validity

Validated evidence for real signature
Unclear evidence for real signature
Evidence for artefact signature
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
RNA editing activity of APOBEC3A Statistical association
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.