GENE REFERENCE / HGNC:9449

PRNP

prion protein (Kanno blood group)

protein-coding gene20p13Gene information

What does this gene do?

The PRNP gene provides instructions for making a protein called prion protein (PrP), which is active in the brain and several other tissues. Although the precise function of this protein is unknown, researchers have proposed that it play a role in several important processes. These include the transport of copper into cells and the protection of brain cells (neurons) from injury (neuroprotection). Studies have also suggested that PrP plays a role in the formation of synapses, which are the junctions between neurons where cell-to-cell communication occurs.

Different forms of PrP have been identified. The normal version is often designated PrP^C to distinguish it from abnormal forms of the protein, which are generally designated PrP^Sc.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-06-28. Source review: 2024-06.

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: 236
Submissions for variants in or overlapping this gene: 446
Submissions explicitly reporting this gene: 410
Alleles reported pathogenic / likely pathogenic: 31
VariationIDs with uncertain significance: 99
VariationIDs with conflicting classifications: 7

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 PRNP?

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 31 alleles in PRNP 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 PRNP.

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

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