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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

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
12,492
Likely pathogenic
1
VUS
23,562
Likely benign
1,039
Benign
363

Patient phenotypes

Proportions of phenotypes among 6626 patients carrying pathogenic or likely pathogenic variants on MYCN gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
39.9%
Abnormality of the cardiovascular system
26.5%
Abnormality of the musculoskeletal system
26.2%
Abnormality of the eye
21.7%
Abnormality of head or neck
19.9%
Abnormality of the ear
12.4%
Abnormality of the integument
12%
Growth abnormality
11.6%
Abnormality of the genitourinary system
11.5%
Abnormality of limbs
11.1%
Abnormality of the digestive system
8.8%
Abnormality of the immune system
7.3%
Abnormality of the endocrine system
4.8%
Abnormality of blood and blood-forming tissues
4.7%
Abnormality of the respiratory system
4.4%
Neoplasm
3.3%
Abnormality of prenatal development or birth
2.5%
Constitutional symptom
1.4%
Abnormal cellular phenotype
1.1%
Abnormality of the breast
0.7%
Abnormality of the voice
0.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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