PLCB1
Chr 20ARphospholipase C beta 1
Also known as: DEE12, EIEE12, PI-PLC, PLC-154, PLC-I, PLC-beta-1, PLC154, PLCB1A
The protein catalyzes the formation of inositol 1,4,5-trisphosphate and diacylglycerol from phosphatidylinositol 4,5-bisphosphate, mediating intracellular signal transduction in response to extracellular signals. Biallelic mutations cause developmental and epileptic encephalopathy 12 through autosomal recessive inheritance. The high pLI score (0.98) and low LOEUF score (0.30) indicate this gene is highly intolerant to loss-of-function variants.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
547 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 3 | 0 | 24 | 0 | 27 |
Likely Pathogenic | 2 | 0 | 3 | 0 | 5 |
VUS | 0 | 146 | 25 | 3 | 174 |
Likely Benign | 0 | 6 | 122 | 117 | 245 |
Benign | 0 | 0 | 58 | 3 | 61 |
Conflicting | — | 10 | |||
| Total | 5 | 152 | 232 | 123 | 522 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PLCB1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools