Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs730881394
rs730881394
0.010 GeneticVariation BEFREE We describe a woman with variant AT with two novel mutations in ATM (IVS14+2T>G and 5825C>T, p.A1942V) who died at age 48 with pancreatic adenocarcinoma. 24090759

2013

dbSNP: rs376676328
rs376676328
0.010 GeneticVariation BEFREE Additionally, 8734A>G (Arg2912Gly) associated previously with breast cancer susceptibility and suggested to be causative also for A-T was detected in 2/541 of familial cases, but not in unselected cases (0/1124) or controls (0/1107). 17166884

2007

dbSNP: rs2234997
rs2234997
ATM
0.010 GeneticVariation BEFREE The cellular phenotype of a lymphoblastoid cell line established from an AT patient (AT173) who showed classical clinical AT features, and carried two homozygous missense alterations, the 378T>A variant and 9022C>T located within the ATM kinase domain, has been characterized. 12552566

2003

dbSNP: rs1478081526
rs1478081526
ATM
TA 0.700 GeneticVariation CLINVAR A multi-gene panel beyond BRCA1/BRCA2 to identify new breast cancer-predisposing mutations by a picodroplet PCR followed by a next-generation sequencing strategy: a pilot study. 30482293

2019

dbSNP: rs587781672
rs587781672
T 0.700 CausalMutation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018

dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Association Between Inherited Germline Mutations in Cancer Predisposition Genes and Risk of Pancreatic Cancer. 29922827

2018

dbSNP: rs876658502
rs876658502
ATM
TA 0.700 CausalMutation CLINVAR Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers. 29665859

2018

dbSNP: rs1060501609
rs1060501609
ATM
C 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs1060501657
rs1060501657
C 0.700 CausalMutation CLINVAR Germline Mutations in Cancer Susceptibility Genes in a Large Series of Unselected Breast Cancer Patients. 28724667

2017

dbSNP: rs121434218
rs121434218
0.700 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs1555092430
rs1555092430
ATM
T 0.700 CausalMutation CLINVAR Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. 27873105

2017

dbSNP: rs1555104609
rs1555104609
ATM
T 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021

2017

dbSNP: rs1555114558
rs1555114558
0.700 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587778065
rs587778065
ATM
0.700 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587779833
rs587779833
ATM
G 0.700 CausalMutation CLINVAR Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels. 28152038

2017

dbSNP: rs587779834
rs587779834
ATM
A 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587779844
rs587779844
ATM
0.700 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs587781831
rs587781831
ATM
C 0.700 CausalMutation CLINVAR Rare, protein-truncating variants in ATM, CHEK2 and PALB2, but not XRCC2, are associated with increased breast cancer risks. 28779002

2017

dbSNP: rs587782276
rs587782276
ATM
G 0.700 GeneticVariation CLINVAR Presented Abstracts from the Thirty Sixth Annual Conference of the National Society of Genetic Counselors (Columbus, OH, September 2017). 28956312

2017

dbSNP: rs587782719
rs587782719
A 0.700 CausalMutation CLINVAR Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene. 27913932

2017

dbSNP: rs730881336
rs730881336
ATM
T 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021

2017

dbSNP: rs730881386
rs730881386
C 0.700 CausalMutation CLINVAR Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017

dbSNP: rs748840480
rs748840480
ATM
A 0.700 CausalMutation CLINVAR Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients. 28281021

2017

dbSNP: rs753961188
rs753961188
CT 0.700 CausalMutation CLINVAR Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study. 27873105

2017

dbSNP: rs777301065
rs777301065
ATM
0.700 GeneticVariation UNIPROT Molecular and Functional Characterization of a Cohort of Spanish Patients with Ataxia-Telangiectasia. 27664052

2017