Gene:
ATM
ataxia telangiectasia mutated

PharmGKB contains no dosing guidelines for this . To report known genotype-based dosing guidelines, or if you are interested in developing guidelines, click here.

PharmGKB has no annotated drug labels with pharmacogenomic information for this . If you know of a drug label with PGx, send us a message.

PharmGKB contains no Clinical Variants that meet the highest level of criteria.

Disclaimer: The PharmGKB's clinical annotations reflect expert consensus based on clinical evidence and peer-reviewed literature available at the time they are written and are intended only to assist clinicians in decision-making and to identify questions for further research. New evidence may have emerged since the time an annotation was submitted to the PharmGKB. The annotations are limited in scope and are not applicable to interventions or diseases that are not specifically identified.

The annotations do not account for individual variations among patients, and cannot be considered inclusive of all proper methods of care or exclusive of other treatments. It remains the responsibility of the health-care provider to determine the best course of treatment for a patient. Adherence to any guideline is voluntary, with the ultimate determination regarding its application to be made solely by the clinician and the patient. PharmGKB assumes no responsibility for any injury or damage to persons or property arising out of or related to any use of the PharmGKB clinical annotations, or for any errors or omissions.

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This is a non-comprehensive list of genetic tests with pharmacogenetics relevance, typically submitted by the manufacturer and manually curated by PharmGKB. The information listed is provided for educational purposes only and does not constitute an endorsement of any listed test or manufacturer.

A more complete listing of genetic tests is found at the Genetic Testing Registry (GTR).

PGx Test Variants Assayed Related Drugs?

The table below contains information about pharmacogenomic variants on PharmGKB. Please follow the link in the "Variant" column for more information about a particular variant. Each link in the "Variant" column leads to the corresponding PharmGKB Variant Page. The Variant Page contains summary data, including PharmGKB manually curated information about variant-drug pairs based on individual PubMed publications. The PMIDs for these PubMed publications can be found on the Variant Page.

The tags in the first column of the table indicate what type of information can be found on the corresponding Variant Page on the appropriate tab.

Links in the "Drugs" column lead to PharmGKB Drug Pages.

List of all ATM variant annotations

Variant?
(142)
Alternate Names ? Drugs ? Alleles ?
(+ chr strand)
Function ? Amino Acid?
Translation
No VIP available No Clinical Annotations available VA
rs11212617 108283161C>A, 11845577C>A, 175-5285G>T
C > A
Intronic
Alleles, Functions, and Amino Acid Translations are all sourced from dbSNP 142

Overview

Alternate Names:  ATA; ATC; ATD; ATDC; TEL1, telomere maintenance 1, homolog (S. cerevisiae); ataxia telangiectasia mutated
Alternate Symbols:  TEL1; TELO1
PharmGKB Accession Id: PA61

Details

Cytogenetic Location: chr11 : q22.3 - q22.3
GP mRNA Boundary: chr11 : 108093559 - 108239826
GP Gene Boundary: chr11 : 108083559 - 108242826
Strand: plus
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

PharmGKB Curated Pathways

Pathways created internally by PharmGKB based primarily on literature evidence.

External Pathways

Links to non-PharmGKB pathways.

  1. apoptotic signaling in response to dna damage - (BioCarta via Pathway Interaction Database)
  2. ATM mediated phosphorylation of repair proteins - (Reactome via Pathway Interaction Database)
  3. ATM mediated response to DNA double-strand break - (Reactome via Pathway Interaction Database)
  4. atm signaling pathway - (BioCarta via Pathway Interaction Database)
  5. BARD1 signaling events - (Pathway Interaction Database NCI-Nature Curated)
  6. Canonical NF-kappaB pathway - (Pathway Interaction Database NCI-Nature Curated)
  7. cdc25 and chk1 regulatory pathway in response to dna damage - (BioCarta via Pathway Interaction Database)
  8. cell cycle: g1/s check point - (BioCarta via Pathway Interaction Database)
  9. cell cycle: g2/m checkpoint - (BioCarta via Pathway Interaction Database)
  10. G2/M DNA damage checkpoint - (Reactome via Pathway Interaction Database)
  11. hypoxia and p53 in the cardiovascular system - (BioCarta via Pathway Interaction Database)
  12. p38 MAPK signaling pathway - (Pathway Interaction Database NCI-Nature Curated)
  13. rb tumor suppressor/checkpoint signaling in response to dna damage - (BioCarta via Pathway Interaction Database)
  14. Recruitment of repair and signaling proteins to double-strand breaks - (Reactome via Pathway Interaction Database)
  15. regulation of cell cycle progression by plk3 - (BioCarta via Pathway Interaction Database)
  16. Regulation of Telomerase - (Pathway Interaction Database NCI-Nature Curated)
  17. role of brca1 brca2 and atr in cancer susceptibility - (BioCarta via Pathway Interaction Database)
  18. Stabilization of p53 - (Reactome via Pathway Interaction Database)
  19. tumor suppressor arf inhibits ribosomal biogenesis - (BioCarta via Pathway Interaction Database)
No related genes are available

Curated Information ?

Evidence Drug
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
metformin

Curated Information ?

Evidence Disease
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
Diabetes Mellitus, Type 2

Publications related to ATM: 12

No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Pharmacogenomics in clinical practice and drug development. Nature biotechnology. 2012. Harper Andrew R, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
A gene variant near ATM is significantly associated with metformin treatment response in type 2 diabetes: a replication and meta-analysis of five cohorts. Diabetologia. 2012. van Leeuwen N, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available VA No VIP available No VIP available
The C Allele of ATM rs11212617 Does Not Associate With Metformin Response in the Diabetes Prevention Program. Diabetes care. 2012. Florez Jose C, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
The role of ATM in response to metformin treatment and activation of AMPK. Nature genetics. 2012. Yee Sook Wah, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A large-scale candidate gene approach identifies SNPs in SOD2 and IL13 as predictive markers of response to preoperative chemoradiation in rectal cancer. The pharmacogenomics journal. 2010. Ho-Pun-Cheung A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Resistance gene expression determines the in vitro chemosensitivity of non-small cell lung cancer (NSCLC). BMC cancer. 2009. Glaysher Sharon, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Somatic mutations affect key pathways in lung adenocarcinoma. Nature. 2008. Ding Li, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. American journal of human genetics. 2008. Smirnov Denis A, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Network modeling links breast cancer susceptibility and centrosome dysfunction. Nature genetics. 2007. Pujana Miguel Angel, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
A common coding variant in CASP8 is associated with breast cancer risk. Nature genetics. 2007. Cox Angela, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome research. 2002. Bonnen Penelope E, et al. PubMed
No Dosing Guideline available No Drug Label available No Clinical Annotation available No Variant Annotation available No VIP available No VIP available
Classification, subtype discovery, and prediction of outcome in pediatric acute lymphoblastic leukemia by gene expression profiling. Cancer cell. 2002. Yeoh Eng-Juh, et al. PubMed

LinkOuts

Entrez Gene:
472
OMIM:
114480
208900
607585
UCSC Genome Browser:
NM_000051
RefSeq RNA:
NM_000051
NM_138292
RefSeq Protein:
NP_000042
NP_612149
RefSeq DNA:
AC_000054
AC_000143
NC_000011
NG_009830
NT_033899
NW_001838042
NW_925173
UniProtKB:
ATM_HUMAN (Q13315)
Ensembl:
ENSG00000149311
GenAtlas:
ATM
GeneCard:
ATM
MutDB:
ATM
ALFRED:
LO000297S
HuGE:
ATM
Comparative Toxicogenomics Database:
472
ModBase:
Q13315
HumanCyc Gene:
HS07604
HGNC:
795

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