FIGURE 3.

Difference in clinical importance detected by three methods. The annotation of germline variants in our previous studies is shown. ¹⁶ , ¹⁹ (A) In total, 4804 variants in 27 cancer‐predisposing genes in ~36,000 individuals were annotated using ACMG/AMP guidelines, information on ClinVar interpretation, and IMPACT of amino acid sequences. (B) In total, 1810 variants in BRCA1/2 in ~100,000 individuals were annotated using the ENIGMA consensus criteria, information on ClinVar interpretation, and IMPACT of the amino acid sequence. ACMG/AMP, American College of Medical Genetics and Genomics and Association for Molecular Pathology; ENIGMA, Evidence‐based Network for the Interpretation of Germline Mutant Alleles.