Fig. 1: Classification of clinically relevant variants in 2628 Rotterdam Study participants in the 59 American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG-AMP) genes according to ClinVar version 2018 and the Human Gene Mutation Database (HGMD). | Genetics in Medicine

Fig. 1: Classification of clinically relevant variants in 2628 Rotterdam Study participants in the 59 American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG-AMP) genes according to ClinVar version 2018 and the Human Gene Mutation Database (HGMD).

From: Reduced penetrance of pathogenic ACMG variants in a deeply phenotyped cohort study and evaluation of ClinVar classification over time

Fig. 1

Classes are defined per the ACMG-AMP guidelines: (1) benign, (2) likely benign, (3) uncertain, (4) likely pathogenic, (5) pathogenic. Variants absent from the database are coded as 0. The classifications for HGMD were converted to class 3 (No interpretation available (NA), functional polymorphism (FP) and disease polymorphism (DP)), class 4 (disease functional polymorphism (DFP), possible disease mutations (DM?)) and class 5 (disease mutation (DM). For visualization purposes, the variants observed in autosomal recessive genes ATP7B and MUTYH are not shown. The numbers at the sides are sums for that respective classification.

Back to article page