GENE REFERENCE / HGNC:11630

HNF1B

HNF1 homeobox B

protein-coding gene17q12Gene information

What does this gene do?

The HNF1B gene provides instructions for making a protein called hepatocyte nuclear factor-1 beta (HNF-1β). This protein attaches (binds) to specific regions of DNA and regulates the activity of other genes. Based on this role, the protein is called a transcription factor. The HNF-1β protein is one of a large group of transcription factors called homeodomain proteins. The homeodomain is a region of the protein that allows it to bind to DNA.

The HNF-1β protein is found in many organs and tissues, including the lungs, liver, intestines, pancreas, kidneys, genital tract, and urinary tract and is thought to play a role in their development. The HNF-1β protein is important for development and function of the kidneys and beta cells in the pancreas. Beta cells produce and release (secrete) the hormone insulin. Insulin helps regulate blood sugar levels by controlling how much sugar (in the form of glucose) is passed from the bloodstream into cells to be used as energy.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-07-25. Source review: 2020-07.

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
renal cysts and diabetes syndromeMONDO:0007669 · Evaluated 2021-01-19	Autosomal dominant	DefinitiveMonogenic Diabetes 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: 1,109
Submissions for variants in or overlapping this gene: 2,044
Submissions explicitly reporting this gene: 1,861
Alleles reported pathogenic / likely pathogenic: 324
VariationIDs with uncertain significance: 319
VariationIDs with conflicting classifications: 98

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 HNF1B?

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 324 alleles in HNF1B 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 HNF1B.

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

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