Genetic variant

rs2231142 a variant in the ABCG2 gene

rs2231142 is a single-letter difference in the ABCG2 gene, on chromosome 4. ClinVar, the public archive of variant interpretations, lists it as drug response: linked to how the body handles certain medicines. It has been reported in connection with Uric acid concentration and Serum, among others. Carrying it does not, on its own, mean you have or will develop any condition.

ClinVar: Drug response
Drug Response
Chromosome 4

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 rs2231142 is the catalogue number of one of them, in the ABCG2 gene. Which letters you carry there — one copy from each parent — is your genotype.

ABCG2 (ATP binding cassette subfamily G member 2 (JR blood group)): The membrane-associated protein encoded by this gene is included in the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the White subfamily.
Gene description from NCBI Gene

rs2231142, also known as Q141K and C421A, is a SNP in the ABCG2 gene, indicating a missense variant....
From SNPedia

Why might it matter?

ClinVar records this variant as drug response, meaning linked to how the body handles certain medicines. 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

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 rs2231142, 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 related to ABCG2

Urate

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.

Upload blood results

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: rs2231142
Gene: ABCG2
Position (GRCh38): chr4:88131170
Variant type: snv
Consequence: stop gained
ClinVar classification: drug response