The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications

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.

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Journal
Animal Genetics
Published
2026-09-04
DOI
https://doi.org/10.1002/age.70197
Primary Topic
Genomics and Rare Diseases
Type
article
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article

The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications

Danika L. Bannasch, Frank G. van Steenbeek, Marie Abitbol, Jason T. Huff et al.
Animal Genetics
Genomics and Rare Diseases
article

The Animal Variant Classification Guidelines v2: An Update With New Criteria and Improved Clarifications

Danika L. Bannasch, Frank G. van Steenbeek, Marie Abitbol, Jason T. Huff, Jens Häggström, Jonas Donner, Nüket Bilgen, Bart J. G. Broeckx, Tosso Leeb, Steven M. Harrison, Heidi Anderson, Ingrid Ljungvall, Åsa Ohlsson, Carrie J. Finno, Hubert Bauer, F. W. Nicholas, M. Martinez, Pascale Smets, Imke Tammen, Jessica J. Hayward, Lucie Chevallier, Guillermo Giovambattista, Caroline Dufaure de Citres, Jessica L. Petersen, Cathryn S. Mellersh, M. Longeri, Leslie A. Lyons, Carlotta Ferrari, Maria G. Strillacci, Jerold Bell, Lore Desmet, Samantha Van Buren
article en

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.

Animal GeneticsVol. 57(5)
Université Claude Bernard Lyon 1 (FR), University of Nebraska–Lincoln (US), University of Bern (CH), Tufts University (US), Centre National de la Recherche Scientifique (FR), The University of Sydney (AU), Consejo Nacional de Investigaciones Científicas y Técnicas (AR), Inserm (FR), École Nationale Vétérinaire d'Alfort (FR), University of Milan (IT), Utrecht University (NL), Cornell University (US), University of Cambridge (GB), Missouri College (US), Swedish University of Agricultural Sciences (SE), Ghent University (BE), Laboklin (Germany) (DE), New York State College of Agriculture & Life Sciences (US), VetAgro Sup (FR), Wisdom Health (United States) (US), Institut NeuroMyoGène (FR), InConTec (Germany) (DE), Center for the Study of State and Society (AR), New York State College of Veterinary Medicine (US), Ambry Genetics (United States) (US), Institut Mondor de Recherche Biomédicale (FR), Instituto de Genética Veterinaria (AR), Genetic Analysis (Norway) (NO), La Salle University (US), University of Tennessee at Knoxville (US), University of Missouri (US), University of California, Davis (US), Universidad Nacional de La Plata (AR)
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Openalex Percentile: Top 11%
Genomics and Rare Diseases
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