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ATM

Synonyms
AT1, ATA, ATC, ATD, ATDC, ATE, TEL1, TELO1
External resources
Summary
The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variety of downstream proteins, including tumor suppressor proteins p53 and BRCA1, checkpoint kinase CHK2, checkpoint proteins RAD17 and RAD9, and DNA repair protein NBS1. This protein and the closely related kinase ATR are thought to be master controllers of cell cycle checkpoint signaling pathways that are required for cell response to DNA damage and for genome stability. Mutations in this gene are associated with ataxia telangiectasia, an autosomal recessive disorder.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
67
Likely pathogenic
6
VUS
12,667
Likely benign
18,418
Benign
5,751

Patient phenotypes

Proportions of phenotypes among 66 patients carrying pathogenic or likely pathogenic variants on ATM gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
34.8%
Abnormality of the musculoskeletal system
28.8%
Abnormality of the cardiovascular system
27.3%
Abnormality of head or neck
25.8%
Abnormality of the eye
15.2%
Growth abnormality
12.1%
Abnormality of limbs
10.6%
Abnormality of the integument
10.6%
Abnormality of the ear
9.1%
Abnormality of the immune system
7.6%
Constitutional symptom
6.1%
Neoplasm
6.1%
Abnormality of the digestive system
4.5%
Abnormality of the respiratory system
4.5%
Abnormality of prenatal development or birth
3%
Abnormality of the endocrine system
3%
Abnormality of the genitourinary system
3%
Abnormality of the voice
1.5%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%

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