Class | Description |
---|---|
SG | Stop-gain (nonsense) variant caused by base substitution |
ESS | Any variant that alters essential splice-site base (+1, +2, −1, −2) |
SS5 | Any variant that alters +5 splice-site base but not an ESS base |
SS | Any variant that alters splice-site base within the first eight intronic bases flanking exon (i.e., +8 to −8) but not an ESS or SS5 base |
EE | Variant that alters the first or last three bases of an exon (i.e., the exon end), but not the frame of the coding sequence |
FS | Frameshifting insertion and/or deletion. It alters length and frame of coding sequence |
IM | Variant that alters initiating methionine start codon |
SL | Variant that causes a stop-loss (i.e., the stop codon is altered) |
IF | Inframe insertion and/or deletion. It alters length but not frame of coding sequence |
NSY | Nonsynonymous variant. It alters amino acid(s) but not coding sequence length |
SY | Synonymous variant. It does not alter amino acid or coding sequence length |
INT | Any variant in an intron that does not alter splice-site bases |
5PU | Any variant in 5′ untranslated region |
3PU | Any variant in 3′ untranslated region |