a sequence change where, compared to a reference sequence, more than one nucleotide replacing the original sequence are the reverse complement of the original sequence.
Format: “prefix”“positions_inverted”“inv”, e.g. r.123_345inv
“prefix” = reference sequence used = r. “positions_inverted” = range of nucleotides inverted = 123_345 “inv” = type of change is an inversion = inv
prefix reference sequences accepted are r. (coding and non-coding RNA)
by definition, the region inverted (“positions_inverted”) contains more then one nucleotide. The description r.234inv is therefore not allowed; a one nucleotide inversion should be described as a substitution
for all descriptions the most 3’ position possible of the reference sequence is arbitrarily assigned to have been changed (3’rule)
the 3’rule applies to ALL descriptions (genome, gene, transcript and protein) of a given variant