GENE REFERENCE / HGNC:9066

PLCG2

phospholipase C gamma 2

protein-coding gene16q24.1Gene information

What does this gene do?

The PLCG2 gene provides instructions for making an enzyme called phospholipase C gamma 2 (PLCγ2). This enzyme performs a chemical reaction that enables molecules to relay signals from outside the cell to the inside. These signals direct cellular functions, including growth, maturation, and movement (migration). The PLCγ2 enzyme is particularly important in immune system cells, including B cells, natural killer (NK) cells, and mast cells. The enzyme is critical for the cells' roles in preventing infection by recognizing and attacking foreign invaders, such as bacteria and viruses.

When foreign invaders are detected, the PLCγ2 enzyme relays signals for B cells to produce specialized proteins called antibodies (or immunoglobulins) that attach to foreign particles and mark them for destruction. Signaling through the enzyme is also involved in the destruction of foreign invaders by NK cells. PLCγ2 enzyme signaling in mast cells and other immune cells triggers inflammation, which helps clear infections or other irritants. Mast cells also play a role in allergic reactions, which occur when the immune system overreacts to stimuli that are not harmful.

Source: MedlinePlus, National Library of Medicine. Source publication: 2023-04-19. Source review: 2019-08.

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: 1,974
Submissions for variants in or overlapping this gene: 3,176
Submissions explicitly reporting this gene: 3,044
Alleles reported pathogenic / likely pathogenic: 12
VariationIDs with uncertain significance: 917
VariationIDs with conflicting classifications: 44

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 PLCG2?

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 12 alleles in PLCG2 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 PLCG2.

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

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