Table 2.
Descriptive patterns or expression of variants in literature
| Level | Descriptive phrases | |
|---|---|---|
| Amino acid | Missense | p.Arg30Gln; Arg30Gln; R30Q; Arg30 to Gln; Arg30 > Gln; Arg30 → Gln; Arg30Gln; Arg30toGln; Arg(30)-Gln; Arg-30 → Gln; Arg30 → Gln; Gln30; 30Gln; Arg/Gln at codon 30; Arginine to Glutamine (substitution) at (codon) 30; Arg > Gln change at amino acid 30; Glutamine for Arginine at residue 30; RQ30; Q30; Arg30 → Gln |
| Nonsense | R30X; p.Arg30X; R30Ter; R30∗. R30Stop | |
| Frameshift | R14fsX4; DeltaR30; ΔR30; 30delArg; Ins30Arg; deletion (or insertion) at codon 30 | |
| Silent | R30R; Arg30Arg; p.Arg30=; p.Arg30Arg. | |
| DNA | Substitution | c.90G>A; G90A; 90G/A; G-90>A; 90→A; 90G-A; G(90)→A; UTR: c.-90G>A; -90 G→A; G to A at -90; c.∗90G>A; c.∗+90G>A |
| Frameshift | c.90delG; c.90del; 90delG; c.90insG; 90insG; 90del2; 1-bp del, 90G; c.89_90insG; c.89_90delinsA; 90delinsA; c.90dupG; insertion of G at position 90; Arg30fsX2; R30fs; insertion (or duplication) of G at position 90; deletion of 2 bp at codon 30. | |
| Intronic | A to G at splice acceptor of intron 2; IVS31AS, A-T, -2; 3061(-1)G --> A; IVS32DS, G-A, +1; IVS2-2A>G; IVS2+1G>A; IVS2+1(G>A); Intron 2 nt-51A>G; 401(-1)G --> A; IVS1, G-A, -1; c.400+30A/G; c.400+30A>G; 400+30A>G; c.-8C>G; Intron 2 (-8G->A); IVS1+15del3; 400+30delG; 400+30insG; etc. | |
| Large deletions/duplications | ### bp deletion; del exon 1, c.del exons 2_4; c.dup exons 2_4; etc. | |
| SNP | rs# or ss#; for example: rs5495 | |
| Haplotype | Haplotype description is gene/locus specific; for example, (TG)m(T)n, i.e., TG and T repeats at intron 9 of CFTR gene: 7T, 5T, 5T/TG10, etc. | |