A Chinese interpretation for the "ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020".
10.3760/cma.j.cn511374-20221017-00692
- Author:
Danhua CHEN
1
Author Information
1. Specialty of Precision Laboratory Medicine, Affiliated Hospital of Guangdong Medical University, Zhanjiang, Guangdong 524002, China. 772931548@qq.com.
- Publication Type:Practice Guideline
- MeSH:
Humans;
Genetic Testing;
Genetic Variation;
Genome, Human;
Rare Diseases/genetics*;
China
- From:
Chinese Journal of Medical Genetics
2023;40(8):915-921
- CountryChina
- Language:Chinese
-
Abstract:
ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020, a supplementary practical guidelines, is based on the Standards and Guidelines for the Interpretation of Sequence Variations issued by the American Society for Medical Genetics and Genomics (ACMG) and the Association of Molecular Pathology (AMP) in 2015 by the British Medical Genetics Society under the Clinical Genomics Society (ACGS), and has integrated the detailed rules of standards developed by the ClinGen Sequence Variant Interpretation (SVI) Working Group by 2020. The further development of the ACMG/AMP guidelines is currently undertaken by the ClinGen SVI working group in the United States, which focuses on the classification of high penetrance and protein coding variants. ClinGen has established many expert panels on variants for specific diseases which required various evidence thresholds and is currently developing disease/gene specific guidelines. The British Medical Genetics Society has collected and integrated information on the guidelines for sequence variation classification and their extended rules, forming its own "2020 ACGS Best Practice Guidelines for Rare Disease Variation Classification" and is regularly updating it. The author has translated and summarized it for the reference of Chinese Medical Genetics Practitioners.
