Home > Gene Browser > NSUN2

NSUN2

Synonyms
MISU, MRT5, SAKI, TRM4
External resources
Summary
This gene encodes a methyltransferase that catalyzes the methylation of cytosine to 5-methylcytosine (m5C) at position 34 of intron-containing tRNA(Leu)(CAA) precursors. This modification is necessary to stabilize the anticodon-codon pairing and correctly translate the mRNA. Alternatively spliced transcript variants encoding different isoforms have been noted 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
14
Likely pathogenic
0
VUS
3,572
Likely benign
6,452
Benign
82

Patient phenotypes

Proportions of phenotypes among 14 patients carring pathogenic or likely pathogenic variants on NSUN2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
64.3%
Abnormality of head or neck
35.7%
Abnormality of the musculoskeletal system
35.7%
Abnormality of the cardiovascular system
21.4%
Abnormality of the eye
21.4%
Growth abnormality
21.4%
Abnormality of the integument
14.3%
Abnormality of limbs
7.1%
Abnormality of the ear
7.1%
Abnormality of the endocrine system
7.1%
Abnormality of the respiratory system
7.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the genitourinary system
0%
Abnormality of the immune system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes