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Recognized gene
ATM
Normalized c.HGVS
c.1009C>A, c.1010G>T, c.1012A>C, c.1012A>G, c.1015A>G and 44 more
Normalized p.HGVS
p.(Ala340Asp), p.(Ala340Gly), p.(Ala340Val), p.(Ala350Thr), p.(Ala350Val) and 43 more
Matching records
4888
PM3-positive records
44
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.9156G>T
|
Phase-confirmed PM3 evidence
Low confidence
|
Homozygous for query variant
context: Confirmed in trans
|
34728979
Abnormal Saccades Differentiate Adolescent Onset Variant Ataxia Telangiectasia from Other Myoclonus Dystonia.
Annals of Indian Academy of Neurology, 2021
|
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.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.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.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.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.8517C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
38755180
Whole genome and transcriptome integrated analyses guide clinical care of pediatric poor prognosis cancers.
Nature communications, 2024
|
Main article | |
| ATM |
NM_000051.4:c.6040G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.8122G > A; p.Asp2708Asn
context: Compound heterozygous candidate
|
38404774
The clinical spectrum of ataxia telangiectasia in a cohort in Sweden.
Heliyon, 2024
|
Main article | |
| ATM |
NM_000051.4:c.5189G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
37029129
Homologous recombination deficiency derived from whole-genome sequencing predicts platinum response in triple-negative breast cancers.
Nature communications, 2023
|
Supplementary material | |
| ATM |
NM_000051.4:c.572T>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.6679C > T; p.R2227C
context: Compound heterozygous candidate
|
37009283
Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.
Frontiers in pediatrics, 2023
|
Main article | |
| ATM |
NM_000051.4:c.590G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37009283
Two novel heterozygote mutations of ATM in a Chinese family with dystonia-dominant ataxia telangiectasia and literature review.
Frontiers in pediatrics, 2023
|
Main article | |
| ATM |
NM_000051.4:c.2944C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Potential PM3 evidence identified; genotype context not structured
context: Compound heterozygous candidate
|
36627197
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
Journal of medical genetics, 2023
|
Main article | |
| ATM |
NM_000051.4:c.6671T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1840C>T; p.Pro614Ser
context: Compound heterozygous candidate
|
36627197
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
Journal of medical genetics, 2023
|
Main article | |
| ATM |
NM_000051.4:c.7382G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.169T>C; p.Trp57Arg
context: Compound heterozygous candidate
|
36627197
Profiling of the genetic features of Chinese patients with gastric cancer with HRD germline mutations in a large-scale retrospective study.
Journal of medical genetics, 2023
|
Main article | |
| ATM |
NM_000051.4:c.6239A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
36334078
Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.
Molecular oncology, 2023
|
Supplementary material | |
| ATM |
NM_000051.4:c.6239A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.4819C[2>1]; p.P1607Hfs*2; frameshift
context: Compound heterozygous candidate
|
36505399
An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.
Frontiers in immunology, 2022
|
Supplementary material | |