Additional file 2 of Population-based estimates of age-specific cumulative risk of breast cancer for pathogenic variants in ATM

Additional file 2. Table S1 Characteristics of the ATM variants identified by targeted-sequencing in the Australian Breast Cancer Family Registry. Legend: HGVSc and HGVSp: variant nomenclature according to the Human Genome Variation Society (HGVS), HGVS.c for coding DNA and HGVS.p for protein variants. ClinVar: classification accessed July 2021. NA indicates that classification was not available. AGVGD: for missense variants only, grade obtained from the web version of Align-GVGD. Only C55 and C65 scores were considered deleterious in this analysis. ATM domain: PFAM FAT (residues 2096–2849), PPI3_PI4_kinase (residues 2713–2962) and FATC (residues 3025–3056) domain definitions were used (missense variants only).