p.P152L is reported as rs547080675 in the dbSNP and is registered in gnomAD, whereas the pathogenic p.R306Q is an extremely rare variant in these databases; in only one adult categorized aged 50–55 years this heterozygous variant has been reported, although both germline and somatic variants are stored in gnomAD (Karczewski et al., 2020; Mitsuhashi et al., 2022; Sherry et al., 2001); we suspected that it might be a somatic variant because a somatic heterozygous OTULIN p.R306Q variant was identified by WES in a cancer specimen from a single patient (Giannakis et al., 2016). This evidence concerns the gene OTULIN and cancer.