ClinVar

Description

The ATM c.5753G>C variant is predicted to result in the amino acid substitution p.Arg1918Thr. This variant has been reported in individuals with breast cancer, pancreatic cancer, colonic adenomas, colorectal cancer, melanoma, non-Hodgkin lymphoma, and chronic lymphocytic leukemia (Table 2, Sipahimalani et al. 2007. PubMed ID: 17640065; Table S2, Bernstein et al. 2010. PubMed ID: 20305132; Table 4, Weren et al. 2015. PubMed ID: 25938944; Table S5, Decker et al. 2017. PubMed ID: 28779002; Table S6, Tiao et al. 2017. PubMed ID: 28652578; Table S3, Girard et al. 2019. PubMed ID: 30303537; Table S1, Casula et al. 2019. PubMed ID: 31382929; Table S6, Akcay et al. 2020. PubMed ID: 32658311; Table S3, Cremin et al. 2020. PubMed ID: 32255556). It has also been reported in control individuals from a chronic lymphocytic leukemia cohort study (Table S6, Tiao et al. 2017. PubMed ID: 28652578). This variant is reported in 0.0097% of alleles in individuals of European (Non-Finnish) descent in gnomAD. It is interpreted as uncertain significance by the vast majority of submitters in ClinVar (https://preview.ncbi.nlm.nih.gov/clinvar/variation/142535/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.