Another limitation is that, although gnomAD is composed of data sets from several studies, it includes cancer cohorts, and, therefore, the detection of pathogenic ATM variants in this data set could be due, at least in part, to the presence of affected individuals with ATM-induced germline cancer predisposition, such as breast or pancreatic cancer cases in the TCGA data set. Here, ATM is linked to familial pancreatic carcinoma.