Classification | Interpretation* |
Pathogenic | Associated with disease risk |
Likely pathogenic | >90% likelihood of disease risk association |
Variant of uncertain significance (VUS) | Available data do not allow classification into one of the other categories |
Likely benign | >90% likelihood that variant is not associated with disease risk |
Benign | Not associated with disease risk |
Criteria for pathogenicity are a continuum, and some laboratories may reach different conclusions regarding the pathogenicity of specific variants. The likelihood of disease in an individual depends on other factors besides pathogenicity of a specific variant, including the inheritance pattern of the disorder (dominant or recessive), other risk factors (genetic or acquired), and the disease penetrance in the population (likelihood that individuals with a pathogenic variant will develop disease).
A United Kingdom guideline from the Association for Clinical Genomic Science (ACGS) provides additional discussion.Do you want to add Medilib to your home screen?