ACMG Guidelines for Variant Interpretation

The ACMG guidelines provide a standardized way for doctors and scientists to assess genetic variants—differences in DNA—to determine how likely they are to cause disease. They evaluate multiple factors, like how common the variant is in the population, its impact on the gene’s function, and evidence from scientific studies. Based on this, variants are classified into categories such as benign (not harmful), likely benign, uncertain significance, likely pathogenic, or pathogenic (disease-causing). This system helps ensure consistent, accurate interpretation of genetic information, guiding diagnosis, treatment, and family counseling.