DNMT3A Chromosome 2
DNA methyltransferase 3 alpha
Upload your DNA to see your personal genotypes for variants in DNMT3A.
What This Gene Does
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. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
"PWWP domain containing|MicroRNA protein coding host genes|7BS C5-cytosine DNA/RNA methyltransferases|DNA/RNA methyltransferases"
Locus Type
gene with protein product
Location
2p23.3
Ensembl
ENSG00000119772
Associated Conditions (29)
Tatton-Brown-Rahman overgrowth syndrome
Inborn genetic diseases
Acute myeloid leukemia
Heyn-Sproul-Jackson syndrome
Autism spectrum disorder
Neoplasm
DNMT3A-related disorder
Pilocytic astrocytoma
Myeloproliferative disorder
Malignant lymphoma
large B-cell
diffuse
Neurodevelopmental disorder
EBV-positive nodal T- and NK-cell lymphoma
Intellectual disability
Hereditary pheochromocytoma and paraganglioma
Craniosynostosis syndrome
Glioblastoma
Rare genetic intellectual disability
Multiple myeloma
+9 more conditions
Key Variants
RS1057520788
Conflicting classifications of pathogenicity
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
Health Risk
RS1180980391
Conflicting classifications of pathogenicity
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
Health Risk
RS1203141216
Conflicting classifications of pathogenicity
Tatton-Brown-Rahman overgrowth syndrome, Inborn genetic diseases, Tatton-Brown-Rahman overgrowth syndrome
Health Risk
RS144689354
Conflicting classifications of pathogenicity
Tatton-Brown-Rahman overgrowth syndrome, Acute myeloid leukemia, Heyn-Sproul-Jackson syndrome
Health Risk
RS147828672
Conflicting classifications of pathogenicity
Myeloproliferative disorder, Tatton-Brown-Rahman overgrowth syndrome, DNMT3A-related disorder
Health Risk
RS150451861
Conflicting classifications of pathogenicity
DNMT3A-related disorder, DNMT3A-related disorder
Health Risk
RS1674984864
Conflicting classifications of pathogenicity
Inborn genetic diseases, Heyn-Sproul-Jackson syndrome, Tatton-Brown-Rahman overgrowth syndrome
Health Risk
RS2149273784
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS367909007
Conflicting classifications of pathogenicity
Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
Health Risk
RS368009374
Conflicting classifications of pathogenicity
Tatton-Brown-Rahman overgrowth syndrome, DNMT3A-related disorder, Inborn genetic diseases
Health Risk
RS369713081
Conflicting classifications of pathogenicity
Tatton-Brown-Rahman overgrowth syndrome, Inborn genetic diseases, Tatton-Brown-Rahman overgrowth syndrome
Health Risk
RS371855601
Conflicting classifications of pathogenicity
Tatton-Brown-Rahman overgrowth syndrome, DNMT3A-related disorder, Tatton-Brown-Rahman overgrowth syndrome
Health Risk
All Variants (167)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1674986110 | Health Risk | Likely pathogenic | Heyn-Sproul-Jackson syndrome, Heyn-Sproul-Jackson syndrome |
| RS1675087282 | Health Risk | Likely pathogenic | Intellectual disability, Intellectual disability |
| RS2031953051 | Health Risk | Likely pathogenic | — |
| RS2149288538 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS2149307985 | Health Risk | Likely pathogenic | Heyn-Sproul-Jackson syndrome, Heyn-Sproul-Jackson syndrome |
| RS2149365348 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2465399013 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS2465418029 | Health Risk | Likely pathogenic | — |
| RS2465481804 | Health Risk | Likely pathogenic | DNMT3A-related disorder, DNMT3A-related disorder |
| RS376550450 | Health Risk | Likely pathogenic | — |
| RS745380962 | Health Risk | Likely pathogenic | Multiple myeloma, Multiple myeloma |
| RS745714537 | Health Risk | Likely pathogenic | — |
| RS750325978 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS757211277 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS759380437 | Health Risk | Likely pathogenic | Acute myeloid leukemia, Tatton-Brown-Rahman overgrowth syndrome, Acute myeloid leukemia |
| RS759747476 | Health Risk | Likely pathogenic | Autism spectrum disorder, Autism spectrum disorder |
| RS760791871 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS763716866 | Health Risk | Likely pathogenic | — |
| RS766110518 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS766506181 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS766858016 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS771174392 | Health Risk | Likely pathogenic | Acute myeloid leukemia, Tatton-Brown-Rahman overgrowth syndrome, Acute myeloid leukemia |
| RS772041639 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS775933506 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS776844136 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS779323387 | Health Risk | Likely pathogenic | See cases, See cases |
| RS779626155 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Acute myeloid leukemia, Inborn genetic diseases |
| RS866917013 | Health Risk | Likely pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS920946076 | Health Risk | Likely pathogenic | — |
| RS929806900 | Health Risk | Likely pathogenic | — |
| RS960019580 | Health Risk | Likely pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS962805778 | Health Risk | Likely pathogenic | See cases, Hypoparathyroidism, See cases |
| RS1164367418 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1178623915 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1195416744 | Health Risk | Pathogenic | EBV-positive nodal T- and NK-cell lymphoma, EBV-positive nodal T- and NK-cell lymphoma |
| RS1200243711 | Health Risk | Pathogenic | — |
| RS1240736156 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1352259738 | Health Risk | Pathogenic | Intellectual disability, Tatton-Brown-Rahman overgrowth syndrome, Intellectual disability |
| RS1365479526 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1395575712 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1418039680 | Health Risk | Pathogenic | — |
| RS1432383727 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1465829182 | Health Risk | Pathogenic | Neurodevelopmental disorder, Neurodevelopmental disorder |
| RS1553412022 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1553412880 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1553413823 | Health Risk | Pathogenic | — |
| RS1553414406 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1553423604 | Health Risk | Pathogenic | — |
| RS1558669897 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |
| RS1558669964 | Health Risk | Pathogenic | Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome |