PLCB4 p.Phe7fs
c.21del · VCV3342734
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function in a LoF-intolerant gene |
|---|---|---|
| NMD | predicted | premature termination codon in exon 4 of 40 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.3 | GERP -0.98, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- PLCB4
- Protein
- p.Phe7fs
- Coding
- c.21del
- MANE Select
- NM_001377142
- Type
- Deletion
- Location
- chr20:9307833 (GRCh38)
- Gene constraint
- LOEUF 0.509 · pLI 0.97 (gnomAD)
- Structure
- AlphaFold pLDDT 86.03
Similar variants
- PLCB4 p.Glu1011fs Pathogenic ★ same type
- PLCB4 p.Ile272fs Likely pathogenic ★ same type
- PLCB4 p.Lys1078fs Uncertain significance ★ same type
- PLCB4 c.2525-8del Benign ★ same type
- PLCB4 c.3409-27del Benign ★ same type
- PLCB4 c.3409-6_3409-5del Benign ★ same type
- PLCB4 c.3409-7_3409-5del Benign ★ same type
- PLCB4 c.1648-279_2051+1546del Pathogenic same type
Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →
Cite Sugi Variant
Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/plcb4-p-phe7fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown