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DNMT3A

Synonyms
DNMT3A2, HESJAS, M.HsaIIIA, TBRS
External resources
Summary
CpG methylation is an epigenetic modification that is important for embryonic development, imprinting, and X-chromosome inactivation. Studies in mice have demonstrated that DNA methylation is required for mammalian development. This gene encodes a DNA methyltransferase that is thought to function in de novo methylation, rather than maintenance methylation. The protein localizes to the cytoplasm and nucleus and its expression is developmentally regulated.

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
33
Likely pathogenic
7
VUS
3,292
Likely benign
6,012
Benign
1,600

Patient phenotypes

Proportions of phenotypes among 39 patients carrying pathogenic or likely pathogenic variants on DNMT3A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
41%
Abnormality of the nervous system
28.2%
Abnormality of the cardiovascular system
23.1%
Abnormality of the musculoskeletal system
20.5%
Abnormality of head or neck
12.8%
Abnormality of the digestive system
7.7%
Abnormality of the ear
7.7%
Abnormality of limbs
5.1%
Abnormality of the endocrine system
5.1%
Abnormality of the voice
5.1%
Neoplasm
5.1%
Abnormality of prenatal development or birth
2.6%
Abnormality of the genitourinary system
2.6%
Abnormality of the immune system
2.6%
Abnormality of the integument
2.6%
Abnormality of the respiratory system
2.6%
Constitutional symptom
2.6%
Growth abnormality
2.6%
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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