Search GLEAM-DB / CoGenEx-PM3
Advanced search and filters
Input query
Recognized gene
ATM
Normalized c.HGVS
c.1009C>A, c.1373G>A, c.146C>T, c.1538A>C, c.1538A>G and 44 more
Normalized p.HGVS
p.(Ala1041Ser), p.(Ala1041Thr), p.(Ala1172Pro), p.(Ala1172Ser), p.(Ala1309Pro) and 43 more
Matching records
4921
PM3-positive records
99
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| ATM |
NM_000051.4:c.8672G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1A4G
context: Confirmed in trans
|
34012291
Breast Cancer Adjuvant Radiotherapy in BRCA1/2, TP53, ATM Genes Mutations: Are There Solved Issues?
Breast cancer (Dove Medical Press), 2021
|
Main article | |
| ATM |
NM_000051.4:c.7271T>C
|
Phase-confirmed PM3 evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
31259827
Hepatosplenic αβ T-Cell Lymphoma as Second Malignancy in Young Adult Patient With Previously Undiagnosed Ataxia-Telangiectasia.
Journal of pediatric hematology/oncology, 2020
|
Main article | |
| ATM |
NM_000051.4:c.8672G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.1A>G
context: Confirmed in trans
|
22146522
Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia.
British journal of cancer, 2012
|
Main article | |
| ATM |
NM_000051.4:c.8672G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
41715124
Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.
Journal of translational medicine, 2026
|
Main article | |
| ATM |
NM_000051.4:c.8672G>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41715124
Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.
Journal of translational medicine, 2026
|
Main article | |
| ATM |
NM_000051.4:c.8672G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
41715124
Novel genetic variants identification and immune profiling in ataxia telangiectasia patients.
Journal of translational medicine, 2026
|
Main article | |
| ATM |
NM_000051.4:c.8524C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
41526458
Whole genome sequencing approach to assess homologous recombination deficiency in a pan-cancer cohort.
Communications medicine, 2026
|
Main article | |
| ATM |
NM_000051.4:c.5934A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41451872
Genetic and Epidemiological Aspects of Louis-Bar Syndrome Transmission: The Impact of Consanguineous Marriages on the Incidence of Hereditary Disorders.
Journal of mother and child, 2025
|
Main article | |
| ATM |
NM_000051.4:c.590G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.748C>T; p.Arg250Ter
context: Compound heterozygous candidate
|
41099376
Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia.
Annals of Indian Academy of Neurology, 2025
|
Main article | |
| ATM |
NM_000051.4:c.7082T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
41099376
Diagnostic Yield and Genetic Burden Analysis of Frequently Mutated Genes in Progressive Ataxia.
Annals of Indian Academy of Neurology, 2025
|
Main article | |
| ATM |
NM_000051.4:c.8269G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4611+9_4611del; c.8520_8524del; c.9038T>A; +2 more
context: Compound heterozygous candidate
|
40596117
Mutational and low-coverage whole genome sequencing identifies actionable DNA repair alterations in prostate cancer plasma DNA.
Scientific reports, 2025
|
Supplementary material | |
| ATM |
NM_000051.4:c.8731A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.5932G>T; Glu1978Ter
context: Compound heterozygous candidate
|
40226629
Genome and transcriptome sequencing for inborn errors of immunity: a feasible multi-omics diagnostic approach.
Frontiers in immunology, 2025
|
Main article | |
| ATM |
NM_000051.4:c.8672G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6219_6256dup; c.7629+1G>A; c.8495G>A; +6 more
context: Compound heterozygous candidate
|
40179146
ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.
The Journal of clinical investigation, 2025
|
Supplementary material | |
| ATM |
NM_000051.4:c.6047A>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
39967281
Evaluation of T-cell repertoire by flow cytometric analysis in primary immunodeficiencies with DNA repair defects.
Scandinavian journal of immunology, 2025
|
Main article | |
| ATM |
NM_000051.4:c.8307G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
39794353
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
NPJ genomic medicine, 2025
|
Main article | |
| ATM |
NM_000051.4:c.8558C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.R2598*; stop-gain
context: Compound heterozygous candidate
|
39845416
Germline predisposition in multiple myeloma.
iScience, 2024
|
Main article | |
| ATM |
NM_000051.4:c.7570G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.5188C>T; p.Arg1730Ter
context: Compound heterozygous candidate
|
39594770
Prospective Screening of Cancer Syndromes in Patients with Mesenchymal Tumors.
Cancers, 2024
|
Main article | |
| ATM |
NM_000051.4:c.7271T>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
39438716
Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.
European journal of human genetics : EJHG, 2024
|
Main article | |
| ATM |
NM_000051.4:c.8246A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with p.Cys1899X
context: Compound heterozygous candidate
|
39386103
The link between ten-eleven translocation-2 (Tet2) related clonal hematopoiesis and sequential onset of two hematologic malignancies.
Genes & diseases, 2024
|
Supplementary material | |
| ATM |
NM_000051.4:c.9017C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38878505
KDM4B mutations in human cancers.
Mutation research, 2024
|
Supplementary material | |