The European Society
of Human Genetics

Stepwise ABC system variant classification of any type of genetic variant

Stepwise ABC system variant classification of any type of genetic variant

An ad hoc working group in ESHG proposed a two-dimensional system for variant classification two years ago, and this work has now progressend and resulted in the so-called ABC system: A stepwise approach to variant classification that can be used independently or as an add-on to the ACMG system. See Figure 2 for schematics.

A link to the Open Access article describing the system: https://rdcu.be/ckvP5

Attached you will find the manuscript .pdf and a .pptx file of all the figures and tables (in colours).

Hopefully this new system will make variant classification easier, more informative and of better consistency and clinical usefulness. We welcome feedback and suggestions for improvements!

Best regards

Gunnar D Houge

Please find further documents on the variant classification system here:

Houge et al., 2021. European Journal of Human Genetics (PDF)

ABC Supplementary Table S1 (Excel)

ABC Variant Class Figures (PowerPoint)

ABC Figure 2 (PowerPoint)