rs4402960 a variant in the IGF2BP2 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 rs4402960 is the catalogue number of one of them, in the IGF2BP2 gene. Which letters you carry there — one copy from each parent — is your genotype.

IGF2BP2 (insulin like growth factor 2 mRNA binding protein 2): This gene encodes a protein that binds the 5' UTR of insulin-like growth factor 2 (IGF2) mRNA and regulates its translation. It plays an important role in metabolism and variation in this gene is associated with susceptibility to diabetes. Alternative splicing and promoter usage results in multiple transcript variants. Related pseudogenes are found on several chromosomes. [provided by RefSeq, Sep 2016]

Gene description from NCBI Gene

rs4402960 replicated as significant for type-2 diabetes risk in 1,900 Japanese patients, with odds r...

From SNPedia

Why might it matter?

ClinVar records this variant as risk factor, meaning linked to a somewhat higher chance of a condition, not a cause on its own. 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

• Diabetes mellitus type 2, susceptibility to

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

rs4402960

Gene

IGF2BP2

Position (GRCh38)

chr3:185793898

Variant type

snv

Consequence

intron variant

ClinVar classification

risk factor

Genome-wide association studies (11)

How common the less frequent letter is

1kG AFR

43.3%

1kG ALL

38.9%

1kG AMR

71.6%

1kG EAS

24.9%

1kG EUR

30.4%

1kG SAS

45.5%

Sources

• dbSNP: rs4402960 — the reference record
• ClinVar — clinical interpretations submitted by laboratories
• SNPedia — community-written summaries
• NCBI Gene: IGF2BP2
• Ensembl: IGF2BP2
• GWAS Catalog — association studies

Related

• The IGF2BP2 gene
• SNP explorer
• Gene directory
• Health conditions