GENE REFERENCE / HGNC:983

BCHE

butyrylcholinesterase

protein-coding gene3q26.1Gene information

What does this gene do?

The BCHE gene provides instructions for making an enzyme called pseudocholinesterase, also called butyrylcholinesterase. This enzyme is produced by the liver and circulates in the blood. Pseudocholinesterase is involved in the breakdown of certain substances, including the medications succinylcholine and mivacurium. These medications may be given during general anesthesia. General anesthesia is typically used during major surgeries and causes a brief period of unconsciousness. Succinylcholine and mivacurium relax the muscles used for movement (skeletal muscles), including the muscles involved in breathing.

Pseudocholinesterase also helps protect the body by breaking down toxic substances, including some agricultural pesticides; certain street drugs; and a compound called solanine, which is found in green potato skin. Researchers also suspect that pseudocholinesterase plays a role in the growth and maturation of nerve cells (neurons) in the developing brain.

Source: MedlinePlus, National Library of Medicine. Source publication: 2025-09-25. Source review: 2025-09.

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: 266
Submissions for variants in or overlapping this gene: 437
Submissions explicitly reporting this gene: 402
Alleles reported pathogenic / likely pathogenic: 71
VariationIDs with uncertain significance: 135
VariationIDs with conflicting classifications: 19

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 BCHE?

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 71 alleles in BCHE 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 BCHE.

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

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