The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications
Year: 2026
Type: article
Abstract: The Animal Variant Classification Guidelines (AVCG) were developed to standardize and objectify the classification of putative disease-causing variants. These guidelines are sufficiently reproducible and are used to classify previously published and new disease-causing variants across species. Here, the guidelines are updated (AVCG.v2), based on a three-phase decision process. Overall, four new criteria and seven clarifying comments were added. The number of criteria has increased from 23 to 27, with three new criteria supporting pathogenicity and one new criterion supporting benign classification. Pharmacogenomic variants were determined to fall within the scope of the guidelines. These updated guidelines are being used by the Variant Pathogenicity Working Group (VPWG), part of the Animal Genetic Testing Standardization standing committee, which is a committee of elected members of the International Society for Animal Genetics (ISAG). Under the auspices of ISAG, the VPWG retrospectively classifies published putative disease-causing variants. The pathogenicity label for a variant will be presented in the variant tables of Online Mendelian Inheritance in Animals (OMIA; https://omia.org/). The AVCGv.2 criteria and recommendations were developed by the expertise of the animal genetics community and the ISAG Executive Committee through the Animal Genetics Testing Standardization Committee endorses and strongly encourages their use to evaluate the evidence supporting pathogenicity of putative disease-causing variants.
Source: Animal Genetics
DOI: 10.1002/age.70197
Authors: Lore Desmet, Carlotta Ferrari, Marie Abitbol, Heidi Anderson, Danika Bannasch, Hubert Bauer, Jerold Bell, Nüket Bilgen, Lucie Chevallier, Caroline Dufaure de Citres, Jonas Donner, Carrie J. Finno, Guillermo Giovambattista, Steven M. Harrison, Jessica J. Hayward, Jens Häggström, Jason T. Huff, Tosso Leeb, Ingrid Ljungvall, Maria Longeri, Leslie A. Lyons, Marcela Martinez, Cathryn Mellersh, Frank W. Nicholas, Åsa Ohlsson, Jessica L. Petersen, Pascale Smets, Maria G. Strillacci, Imke Tammen, Samantha Van Buren, Frank G. van Steenbeek, Bart J. G. Broeckx
Institutions: Ghent University, University of Milan, Lyon 1 Université, Centre National de la Recherche Scientifique, Inserm, VetAgro Sup, Institut NeuroMyoGène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, University of California, Davis, Laboklin (Germany), Tufts University, École Nationale Vétérinaire d'Alfort, Institut Mondor de Recherche Biomédicale, Consejo Nacional de Investigaciones Científicas y Técnicas, Instituto de Genética Veterinaria, Universidad Nacional de La Plata, Ambry Genetics (United States), Cornell University, New York State College of Veterinary Medicine, Swedish University of Agricultural Sciences, University of Bern, University of Missouri, University of Cambridge, The University of Sydney, University of Nebraska–Lincoln, Utrecht University
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: bronze
Funders: Royal Canin, Universiteit Gent
OpenAlex ID: W7208818356