rs11887534 a variant in the ABCG5 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 rs11887534 is the catalogue number of one of them, in the ABCG5 gene. Which letters you carry there — one copy from each parent — is your genotype.

ABCG5 (ATP binding cassette subfamily G member 5): The protein encoded by this gene is a member of 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

rs11887534, a SNP in the hepatic cholesterol transporter ABCG8 gene, has been implicated in gallston...

From SNPedia

Why might it matter?

ClinVar records this variant as likely benign, meaning probably harmless. 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

• Gallbladder disease 4
• Sitosterolemia
• Sitosterolemia 1
• Cardiovascular phenotype
• Sitosterolemia 2
• ABCG8-related disorder
• Gallstones

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

rs11887534

Gene

ABCG5

Position (GRCh38)

chr2:43839107

Variant type

snv

Consequence

missense variant

ClinVar classification

Benign/Likely benign; association

Genome-wide association studies (20)

How common the less frequent letter is

gnomAD ALL

0%

1kG AFR

7.6%

1kG ALL

6.1%

1kG AMR

90.3%

1kG EAS

1.4%

1kG EUR

92%

1kG SAS

95.8%

Sources

• dbSNP: rs11887534 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: ABCG5
• Ensembl: ABCG5
• GWAS Catalog — association studies

Related

Other variants in ABCG5

• rs119479065
• rs119479066
• rs119479067
• rs119480069
• rs119480070
• rs387906912
• rs143680435
• rs869025350
• rs779676205
• rs56204478

• The ABCG5 gene
• SNP explorer
• Gene directory
• Health conditions