Genetic variant
rs782790256 a variant in the GATA1 gene
rs782790256 is a single-letter difference in the GATA1 gene, on chromosome X. ClinVar, the public archive of variant interpretations, lists it as conflicting interpretations: laboratories that have assessed it do not agree on whether it matters. It has been reported in connection with Diamond-Blackfan anemia and GATA binding protein 1 related thrombocytopenia with dyserythropoiesis, among others. Carrying it does not, on its own, mean you have or will develop any condition.
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 rs782790256 is the catalogue number of one of them, in the GATA1 gene. Which letters you carry there — one copy from each parent — is your genotype.
GATA1 (GATA binding protein 1): This gene encodes a protein which belongs to the GATA family of transcription factors. The protein plays an important role in erythroid development by regulating the switch of fetal hemoglobin to adult hemoglobin. Mutations in this gene have been associated with X-linked dyserythropoietic anemia and thrombocytopenia. [provided by RefSeq, Jul 2008]
Gene description from NCBI Gene
Why might it matter?
ClinVar records this variant as conflicting interpretations, meaning laboratories that have assessed it do not agree on whether it matters. 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
- Diamond-Blackfan anemia
- GATA binding protein 1 related thrombocytopenia with dyserythropoiesis
- Inborn genetic diseases
- Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
- X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
- Beta-thalassemia-X-linked thrombocytopenia syndrome
- Thrombocytopenia
- X-linked
- with or without dyserythropoietic anemia
- Transient myeloproliferative syndrome
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?
If you have taken a consumer DNA test (23andMe, AncestryDNA and similar), you can download its raw data file and check. Create a free account, upload the file, and this page will show the letters you carry at rs782790256, if your test read this position.
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?
- Find out whether you carry it. Reading about a variant says nothing about you until you know your genotype.
- Put it in context. Add your blood results, so the variant can be read against what your body is doing.
- Ask questions. Dr. Hemsworth, our AI assistant, can explain this variant and your results in plain English.
- 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
- rs782790256
- Gene
- GATA1
- Position
- chrX:48791906
- ClinVar classification
- Conflicting classifications of pathogenicity
Sources
- dbSNP: rs782790256 — the reference record
- ClinVar — clinical interpretations submitted by laboratories
- SNPedia — community-written summaries
- NCBI Gene: GATA1
- Ensembl: GATA1