Gene Fusion Specification


This specification is in a pre-release state, assembled by consensus through a cross-consortia initiative with representatives from multiple professional societies. This draft has been aligned with recommendations from the Human Genome Organization (HUGO) and is recommended by HGVS as the nomenclature for the exon-based description of gene fusions products. Community alignment status is organized on GitHub and summarized at Community Feedback and Endorsements.

The Gene Fusion Specification is a collection of models and guidance for the precise representation of gene fusions, assembled by a cross-consortia initiative between members of the Clinical Genome (ClinGen) Somatic Cancer Clinical Domain Working Group, the Cancer Genomics Consortium, the Cytogenetics Committee of the College of American Pathologists (CAP) and the American College of Medical Genetics and Genomics (ACMG), the Association for Molecular Pathologists (AMP), and the Variant Interpretation for Cancer Consortium.

This specification provides a precise definition, minimal information model, and nomenclature for both assayed and categorical gene fusions. This specification incorporates, extends, and refines related standards, including the HUGO Gene Nomenclature Committee (HGNC) recommendations for the designation of gene fusions.