GENE REFERENCE / HGNC:3691

FGFR4

fibroblast growth factor receptor 4

protein-coding gene5q35.2Gene information

What does this gene do?

The FGFR4 gene provides instructions for making a protein called fibroblast growth factor receptor 4. This protein is part of a family of fibroblast growth factor receptors that share similar structures and functions. These receptor proteins play a role in important processes such as cell division, regulating cell growth and maturation, formation of blood vessels, wound healing, and embryo development.

The FGFR4 protein interacts with specific growth factors to conduct signals from the environment outside the cell to the nucleus. The nucleus responds to these signals by switching on or off appropriate genes that help the cell adjust to changes in the environment. In response, the cell might divide, move, or mature to take on specialized functions. Although specific functions of FGFR4 remain unclear, studies indicate that the gene is involved in muscle development and the maturation of bone cells in the skull. The FGFR4 gene may also play a role in the development and maintenance of specialized cells (called foveal cones) in the light-sensitive layer (the retina) at the back of the eye.

Source: MedlinePlus, National Library of Medicine. Source publication: 2020-08-18. Source review: 2005-06.

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: 227
Submissions for variants in or overlapping this gene: 305
Submissions explicitly reporting this gene: 235
Alleles reported pathogenic / likely pathogenic: 3
VariationIDs with uncertain significance: 104
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 FGFR4?

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 FGFR4 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 FGFR4.

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

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