rs147001633 a variant in the DNMT3A gene

What is this?

Your DNA is a long sequence of four letters. At a few million positions, people commonly differ by a single letter; each of those positions is called a SNP (“snip”), and rs147001633 is the catalogue number of one of them, in the DNMT3A gene. Which letters you carry there — one copy from each parent — is your genotype.

DNMT3A (DNA methyltransferase 3 alpha): 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.

Gene description from NCBI Gene

Why might it matter?

ClinVar records this variant as likely pathogenic, meaning probably able to cause or contribute to disease. A classification describes the variant, not you: what it means for one person depends on their genotype, their family history and often on other genes and circumstances.

Conditions it has been reported with

• Acute myeloid leukemia
• Tatton-Brown-Rahman overgrowth syndrome
• Inborn genetic diseases
• Abnormality of the nervous system
• Clonal Cytopenia of Undetermined Significance
• Intellectual disability
• DNMT3A-related disorder
• EBV-positive nodal T- and NK-cell lymphoma
• Neoplasm

Listed in ClinVar submissions for this variant. Being listed is a report of an association, not a statement that the variant causes the condition in any given person.

Do I have this variant?

Connect this with your blood results

A gene is a fixed instruction; a blood test shows what your body is doing now. CheckMyBloods reads the two side by side, so a variant can be set against the markers it could plausibly affect.

Blood markers do not diagnose a genetic condition, and a variant does not explain a blood result on its own. Together, with symptoms and family history, they give a clinician context.

What should I do next?

1. Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
2. Put it in context. Add your blood results, so the variant can be read against what your body is doing.
3. Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
4. Take anything that worries you to a professional. A GP or genetic counsellor can order a confirmatory test and interpret it with your history.

This page is general information drawn from public research databases. It cannot diagnose anything, and it is not a substitute for advice from a doctor or genetic counsellor who knows your history.

Technical details

dbSNP ID

rs147001633

Gene

DNMT3A

Position

chr2:25234373

ClinVar classification

Pathogenic/Likely pathogenic

Genome-wide association studies (7)

Sources

• dbSNP: rs147001633 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: DNMT3A
• Ensembl: DNMT3A
• GWAS Catalog — association studies

Related

Other variants in DNMT3A

• rs587777506
• rs587777507
• rs587777508
• rs587777509
• rs587777510
• rs796065342
• rs797044904
• rs766858016
• rs370376334
• rs886041641

• The DNMT3A gene
• SNP explorer
• Gene directory
• Health conditions