Variations in Nomenclature of Clinical Variants between Annotation Tools

• Published in: Laboratory medicine Vol. 53; no. 3; pp. 242 - 245
• Main Authors: Park, Kyoung-Jin, Park, Jong-Ho
• Format: Journal Article
• Language: English
• Published: US Oxford University Press 01.05.2022
• Subjects: Accuracy; Annotations; Gene mutations; Genetic aspects; Genetic Variation; Genetics; Genome, Human; Genomes; Genomics; Humans; Laboratories; Medical colleges; Medical research; Medicine; Medicine, Experimental; Molecular Sequence Annotation; Mutation; Open source software; Proteins; Software; annotation; variant; nomenclature; ANNOVAR; Human Gene Mutation Database (HGMD); snpEff
• ISSN: 0007-5027; 1943-7730
• DOI: 10.1093/labmed/lmab074

Abstract Background Accurate nomenclature of variants is an essential element for genetic diagnosis and patient care. Objective To investigate annotation differences of clinical variants between annotation tools. Methods We analyzed 218,156 clinical variants from the Human Gene Mutation Database. Multiple nomenclatures based on RefSeq transcripts were provided using ANNOVAR and snpEff. Results The concordance rate between ANNOVAR and snpEff was approximately 85%. Based on the Human Genome Variation Society (HGVS) nomenclature, snpEff was more accurate than ANNOVAR (coding variants, 99.3% vs 84.9%; protein variants, 94.3% vs 79.8%). When annotating each variant with ANNOVAR and snpEff, the accuracy of nomenclature was 99.5%. Conclusions There were substantial differences between ANNOVAR and snpEff annotations. The findings of this study suggest that simultaneous use of multiple annotation tools could decrease nomenclature errors and contribute to providing standardized clinical reporting.