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MYCN

Synonyms
MODED, N-myc, NMYC, ODED, bHLHe37
External resources
Summary
This gene is a member of the MYC family and encodes a protein with a basic helix-loop-helix (bHLH) domain. This protein is located in the nucleus and must dimerize with another bHLH protein in order to bind DNA. Amplification of this gene is associated with a variety of tumors, most notably neuroblastomas. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
5
Likely pathogenic
23
VUS
15,015
Likely benign
335
Benign
133

Patient phenotypes

Proportions of phenotypes among 28 patients carring pathogenic or likely pathogenic variants on MYCN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
46.4%
Abnormality of the cardiovascular system
28.6%
Abnormality of the integument
17.9%
Abnormality of the digestive system
14.3%
Abnormality of the eye
14.3%
Abnormality of the genitourinary system
14.3%
Growth abnormality
14.3%
Neoplasm
14.3%
Abnormality of head or neck
10.7%
Abnormality of the immune system
10.7%
Abnormality of the musculoskeletal system
10.7%
Abnormality of the respiratory system
10.7%
Abnormal cellular phenotype
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of blood and blood-forming tissues
3.6%
Abnormality of limbs
3.6%
Constitutional symptom
3.6%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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