GENE REFERENCE / HGNC:22938

NLRP12

NLR family pyrin domain containing 12

protein-coding gene19q13.42Gene information

What does this gene do?

The NLRP12 gene provides instructions for making a protein called monarch-1. Monarch-1 is a member of a family of proteins called intracellular "NOD-like" receptor (NLR) proteins. Monarch-1 is found mainly in certain types of white blood cells.

NLR proteins are involved in the immune system, helping to control the immune system's response to injury, toxins, or foreign invaders. The monarch-1 protein is involved in an immune process known as inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight foreign invaders and help with tissue repair. After this has been accomplished, stopping the inflammatory response helps to prevent damage to the body's own cells and tissues.

Monarch-1 primarily stops (inhibits) inflammation by blocking the release of specific molecules that are involved in the process. However, monarch-1 can also promote the production of proteins that trigger inflammation when certain molecules are present.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-17. Source review: 2008-09.

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: 1,555
Submissions for variants in or overlapping this gene: 2,607
Submissions explicitly reporting this gene: 2,534
Alleles reported pathogenic / likely pathogenic: 13
VariationIDs with uncertain significance: 958
VariationIDs with conflicting classifications: 114

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 NLRP12?

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 13 alleles in NLRP12 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 NLRP12.

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

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