GENE REFERENCE / HGNC:225

ADAR

adenosine deaminase RNA specific

protein-coding gene1q21.3Gene information

What does this gene do?

The ADAR gene provides instructions for making a protein called RNA-specific adenosine deaminase 1 (ADAR1). This protein is involved in making changes to (editing) RNA, a chemical cousin of DNA. Specifically, it attaches (binds) to RNA and changes an RNA building block (nucleotide) called adenosine to another nucleotide called inosine.

The ADAR1 protein is involved in the control of the innate immune response, which is the immune system's early response to foreign invaders (pathogens). The immune system sometimes fails to recognize the body’s own RNA and may act as though it belongs to a pathogen that should be attacked. By changing adenosine to inosine, ADAR1 may prevent the immune system from targeting the body's own tissues.

The ADAR1 protein is also thought to inhibit the replication and spread of certain viruses, such as human immunodeficiency virus (HIV) and hepatitis C, by modifying their RNA. In addition, the ADAR1 protein controls the function of certain chemical messengers called neurotransmitters at particular sites in the body by modifying the RNA blueprint for the receptor proteins that interact with the neurotransmitters. Studies suggest that the ADAR1 protein may have other functions that are not well understood.

Source: MedlinePlus, National Library of Medicine. Source publication: 2024-09-26. Source review: 2024-09.

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
Leigh syndromeMONDO:0009723 · Evaluated 2020-08-27	Autosomal recessive	LimitedMitochondrial Diseases Gene Curation Expert Panel
ADAR-related type 1 interferonopathyMONDO:0700261 · Evaluated 2024-10-31	Autosomal recessive	DefinitiveLeukodystrophy and Leukoencephalopathy Gene Curation Expert Panel
ADAR-related type 1 interferonopathyMONDO:0700261 · Evaluated 2024-10-21	Autosomal dominant	DefinitiveLeukodystrophy and Leukoencephalopathy 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: 1,790
Submissions for variants in or overlapping this gene: 2,557
Submissions explicitly reporting this gene: 2,493
Alleles reported pathogenic / likely pathogenic: 121
VariationIDs with uncertain significance: 920
VariationIDs with conflicting classifications: 49

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 ADAR?

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 121 alleles in ADAR 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 ADAR.

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

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