| Variant ID | 30288 |
|---|---|
| Entrez Gene ID | 1788 |
| Gene | DNMT3A (GeneCards) |
| Location | hg19 2:25463184-25463184
hg38 2:25240315-25240315 |
| Disease | Asymptomatic |
| Method | smMIP |
| Mutation(HGVS format) | NC_000002.11:g.25463184 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 770 |
| Amino acid changes in protein | S > L |
| Position in cDNA | 2309 |
| Changes in cDNA | C > T |
| mRNA accession | NM_022552 |
| mRNA length | NA |
| Reference length | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.8896 |
| CADD Raw score (version 1.3) | 14.995452 (Deleterious) |
| FATHMM raw prediction score | 0.95685 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| FitCons score | 0.707 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.5 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.953 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.543 |
| Deleterious probability by DeFine | 0.9604 (Deleterious) |
| Entrez Gene ID | 1788 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DNMT3A (GeneCards) |
| Number of variants in DNMT3A in this database | 139 (view all the variants) |
| Full name | DNA methyltransferase 3 alpha |
| Band | 2p23.3 |
| Other IDs | Vega: OTTHUMG00000094777 OMIM: 602769 HGNC: HGNC:2978 Ensembl: ENSG00000119772 |
| Other names | TBRS, DNMT3A2, M.HsaIIIA |
| 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. [provided by RefSeq, Mar 2016] |
| Individual ID | 28669404.49 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28669404 |
| Whose mosaic mutation | Normal |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 28669404 |
|---|---|
| Title | Ultra-sensitive Sequencing Identifies High Prevalence of Clonal Hematopoiesis-Associated Mutations throughout Adult Life |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.07 |
| Disease | Asymptomatic |
| Number of cases | cases of unknown sex: 223; |