Mutational Signatures (v3.2 - March 2021)
SBS30 · GRCh37 · COSMIC v93
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.
SBS30 is due to deficiency in base excision repair due to inactivating mutations in NTHL1.
Summary of the technical and experimental evidence available in the scientific literature regarding the validation of the mutational signature.
|Background||Identification study||First included in COSMIC|
|Alexandrov et al. 2015 Nature Genetics / Nik-Zainal et al. 2016 Nature||v2|
|Identification||NGS technique||Different variant callers||Multiple sequencing centres|
|WES & WGS||Yes||Yes|
|Technical validation||Validated in orthogonal techniques||Replicated in additional studies||Extended context enrichment|
|Proposed aetiology||Mutational process||Support|
|BER deficiency||Experimental confirmation|
|Experimental validation||Experimental study||Species|
|Drost et al. 2017 Science||Human|
Numbers of mutations per megabase attributed to each mutational signature in human cancer samples where the signature is present.
Only those cancer types with tumors in which signature activity is attributed are shown. The numbers below the dots for each cancer type indicate the number of tumors in which the signature was attributed (above the blue horizontal bar) and the total number of tumors analysed (below the blue bar). Only high confidence data is displayed (samples with ≥10 mutations and >0.90 reconstruction accuracy).
Transcriptional strand bias
Differences between current and previous profiles
The cosine similarity between the prior and current versions of signature SBS30 is 0.96.