variant classification
The systematic categorization of genetic variants based on their clinical significance and supporting evidence.
Full Definition
A standardized framework for interpreting the clinical relevance of genetic variants using evidence-based criteria established by professional guidelines such as ACMG-AMP. Classifications range from pathogenic and likely pathogenic variants (associated with disease) to benign and likely benign variants (not disease-causing). Variants with insufficient evidence are classified as variants of uncertain significance (VUS). This classification system ensures consistent interpretation across laboratories and guides clinical decision-making.
Usage
Usage note: Reference ACMG-AMP guidelines when discussing classification criteria; distinguish from technical variant calling processes.
In Context
- "The molecular tumor board reviewed the variant classification evidence before upgrading the BRCA2 alteration from VUS to likely pathogenic." — Tumor board discussion
- "Updated variant classification guidelines reclassified 15% of previously uncertain variants." — Laboratory quality improvement