rs147001633

This is a variant in the DNMT3A gene that changes a arginine to an histidine.

▶

GWAS Catalog Trait Associations (6)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

myeloid leukemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 2.58
p 4.0e-16
N 572,827
Major Consortium StudyLarge GWAS
multi-ancestry

erythrocyte volume

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.68
p 5.0e-15
N 407,294
Major Consortium StudyLarge GWAS
European

polycythemia vera

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 2.23
p 3.0e-12
N 571,829
Major Consortium StudyLarge GWAS
multi-ancestry

leukemia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 1.64
p 3.0e-11
N 630,883
Major Consortium StudyLarge GWAS
multi-ancestry

Pancytopenia

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 1.72
p 4.0e-11
N 627,862
Major Consortium StudyLarge GWAS
multi-ancestry

myeloproliferative disorder

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 2.32
p 5.0e-19
N 447,038
Major Consortium StudyLarge GWAS
European
▶

ClinVar annotation

Pathogenic★★★☆
19 submitters29 publications

Abnormality of the nervous system; Acute myeloid leukemia (AML); Clonal Cytopenia of Undetermined Significance; DNMT3A-related disorder; EBV-positive nodal T- and NK-cell lymphoma; Inborn genetic diseases; Intellectual disability; Tatton-Brown-Rahman overgrowth syndrome; not specified

View on ClinVar →
▶

Research that mentions this SNP (1)

▶
Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities
Case reportN=115Göran Carlsson et al.(2009)· Pediatric Blood &amp; Cancer

A prospective study of 115 patients with hypoplastic bone marrow failure syndromes using whole exome sequencing and targeted NGS panel testing identified pathogenic variants in 54% (62/115) of cases. Genomic characterization changed diagnostic categorization in 26% of patients, including reclassification from acquired to inherited causes. Multiple novel pathogenic variants were identified in TERT, FANCA, RPS7, and SAMD9 genes.

Traits studied:Aplastic anemiaAtaxia-pancytopenia syndromeBone marrow failure syndromesDiamond-Blackfan anemiaDyskeratosis congenitaFanconi anemiaHypoplastic bone marrow failureMyelodysplastic syndromeSevere congenital neutropeniaShwachman-Diamond syndrome
PubMedDOIMetascience Observatory

About DNMT3A

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]

View all DNMT3A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…