Table 1 Summary of the types of DNMs across the genome
From: Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications
DNM class | Size | Description | Average number of DNMs* per genome | |
|---|---|---|---|---|
Copy number variant (CNV) | > 50 bp | Genomic deletions or duplications that can span both gene regions and noncoding, regulatory regions | 0.05–0.16 | |
Insertion/deletion (indel) | < 50 bp | Insertions or deletions of a small number of nucleotides that alter the reading frame of a protein are called frameshift mutations and typically result in a truncated peptide | 2.6–9 | |
Single-nucleotide variant (SNV) | 1 bp | Single base-pair change in the genome | 45–89 | |
SNV subtype | Likely gene disrupting | Results in a truncated peptide, often referred to as stop-gain, stop-lost, or splice-altering mutations | ||
Missense | Changes the amino acid sequence of a peptide but does not lead to peptide truncation | |||
Synonymous | Mutations that do not alter peptide sequence or length but may alter regulatory regions or RNA processing | |||
Noncoding | Changes that occur outside the protein-coding regions of the genome | |||
Mosaic SNV | 1 bp | Single base-pair changes that occur in only a subset of cells in the human body, sometimes referred to as somatic mutations | 0.05–22.2 | |
Mosaic CNV | > 50 bp | Deletions or duplications that only occur in a subset of cells in the human body | 5e−4–7.7e−3 | |