GENE REFERENCE / HGNC:3688

FGFR1

fibroblast growth factor receptor 1

protein-coding gene8p11.23Gene information

What does this gene do?

The FGFR1 gene provides instructions for making a protein called fibroblast growth factor receptor 1 (FGFR1). This protein is one of four fibroblast growth factor receptors, which are a family of proteins that are involved in processes such as cell division, regulation of cell growth and maturation, formation of blood vessels, wound healing, and embryonic development.

The FGFR1 protein spans the cell membrane, so that one end of the protein is inside the cell and the other end sticks out from the outer surface of the cell. This positioning allows the FGFR1 protein to interact with other proteins called fibroblast growth factors (FGFs) outside the cell and to receive signals that help the cell respond to its environment. When an FGF attaches to the FGFR1 protein on the outside of the cell, it starts a series of chemical reactions inside the cell that tell the cell to undergo certain changes or to learn new functions. This signaling is thought to play an important role in the development and growth of several parts of the body, including the brain, the bones in the head and face (craniofacial bones), the bones in the hands and feet, and the long bones in the arms and legs.

The FGFR1 protein plays a critical role in the formation, survival, and movement (migration) of nerve cells (neurons) in several areas of in the brain. In particular, the signals passed through this protein appear to be essential for neurons that produce a hormone called gonadotropin-releasing hormone (GnRH). GnRH controls the production of several other hormones that direct sexual development before birth and during puberty. These hormones are important for the normal function of the ovaries and testes. FGFR1 also appears to play a role in the processing of smells by a specialized group of neurons (olfactory neurons).

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-05-06. Source review: 2024-05.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
Pfeiffer syndrome type 1MONDO:0019659 · Evaluated 2021-05-21	Autosomal dominant	DefinitiveCraniofacial Malformations Gene Curation Expert Panel
osteoglophonic dysplasiaMONDO:0008150 · Evaluated 2021-03-22	Autosomal dominant	LimitedCraniofacial Malformations Gene Curation Expert Panel
Hartsfield-Bixler-Demyer syndromeMONDO:0014196 · Evaluated 2026-07-09	Autosomal dominant	ModerateCraniofacial Malformations Gene Curation Expert Panel

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: 1,452
Submissions for variants in or overlapping this gene: 2,789
Submissions explicitly reporting this gene: 2,670
Alleles reported pathogenic / likely pathogenic: 252
VariationIDs with uncertain significance: 553
VariationIDs with conflicting classifications: 104

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 FGFR1?

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 252 alleles in FGFR1 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 FGFR1.

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

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