SBS10d · GRCh37 · COSMIC v94

Mutational profile

Mutational profile using the conventional 96 mutation type classification. This classification is based on the six substitution subtypes: C>A, C>G, C>T, T>A, T>C, and T>G, as well as the nucleotides immediately 5’ and 3’ to the mutation.

Each of the substitutions is referred to by the pyrimidine of the mutated Watson—Crick base pair. Incorporating information on the bases immediately 5’ and 3’ to each mutated base generates 96 possible mutation types (6 types of substitution x 4 types of 5’ base x 4 types of 3’ base). Mutational signatures are displayed and reported based on the observed trinucleotide frequency of the genome, i.e., representing the relative proportions of mutations generated by each signature based on the actual trinucleotide frequencies of the corresponding reference genome.


Genome: GRCh37

Proposed aetiology

Adenoma from individuals with germline POLD1 exonuclease domain mutations.


Strong lagging replication strand bias. Enriched in non-coding genome (intergenic and intronic) regions.

Acceptance criteria

Summary of the technical and experimental evidence available in the scientific literature regarding the validation of the mutational signature.

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
Robinson et al. 2021 BioRxiv v3.2
Identification NGS technique Different variant callers Multiple sequencing centres
Technical validation Validated in orthogonal techniques Replicated in additional studies Extended context enrichment
Yes No -
Proposed aetiology Mutational process Support
Defective POLD1 proofreading Statistical association
Experimental validation Experimental study Species
- -

Tissue distribution

Adenoma from individuals with germline POLD1 exonuclease domain mutations.

Associated signatures

Associated with SBS10c and ID1.

Differences between current and previous profiles


Genome: GRCh37