GENE REFERENCE / HGNC:5476

IGFBP7

insulin like growth factor binding protein 7

protein-coding gene4q12Gene information

What does this gene do?

The IGFBP7 gene provides instructions for making a protein called insulin-like growth factor-binding protein 7 (IGFBP7). Insulin-like growth factors (IGFs) are molecules that are involved in promoting cell growth and division and preventing cells from self-destructing (undergoing apoptosis) prematurely. The IGFBP7 protein is one of a group of proteins that help control the availability of IGFs in body fluids and tissues and increase or decrease the attachment (binding) of IGFs to other molecules called receptors. The binding of IGFs and their receptors activates the cell signaling processes in which they are involved.

The IGFBP7 protein is active in the lining of blood vessels (the vascular endothelium). Its interactions with IGFs and their receptors are thought to help stop a pathway called BRAF signaling, which is involved in directing cell growth.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2015-08.

ClinGen reviews

We found no matching ClinGen review in the data used here. This does not rule out a link between the gene and a condition.

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 81
Submissions for variants in or overlapping this gene: 136
Submissions explicitly reporting this gene: 109
Alleles reported pathogenic / likely pathogenic: 3
VariationIDs with uncertain significance: 42
VariationIDs with conflicting classifications: 0

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about IGFBP7?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 3 alleles in IGFBP7 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in IGFBP7.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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