Referring to an alteration in a gene (distinct from the reference sequence) that is likely to be associated with an abnormal phenotype or increased disease risk. A likely pathogenic variant meets most but not all criteria to be classified as pathogenic according to the five-tier system for describing the clinical significance of genetic events. A likely pathogenic variant is considered diagnostic and can be used for clinical decision making (see Related terms).

Related terms: benign variant; likely benign; pathogenic variant; variant of uncertain significance