CSNK2B p.Phe22del
c.62TCT[1] · rs2151182182 · VCV1307205
Uncertain significance
Multiple submitters
Classification
Uncertain significance
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Not reported
no gnomAD frequency available for this variant
Conditions
1
Poirier-Bienvenu neurodevelopmental syndrome
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.76 | GERP -0.21, phastCons 0.96 |
Population frequency
dbSNP / gnomAD
No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.
Variant & gene context
- Gene
- CSNK2B
- Protein
- p.Phe22del
- Coding
- c.62TCT[1]
- MANE Select
- NM_001320
- dbSNP
- rs2151182182
- Type
- Microsatellite
- Location
- chr6:31666892 (GRCh38)
- Gene constraint
- LOEUF 0.237 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 93.70 · 10 PDB
- Residue 22
- a UniProt-annotated variant site (in pobinds; associated in cis with c-86)
Similar variants
- CSNK2B p.Met166fs Pathogenic ★★ same condition
- CSNK2B p.His152fs Pathogenic ★ same condition
- CSNK2B p.Cys114_Glu115delinsTer Pathogenic same condition
- CSNK2B c.175+1G>A Pathogenic/Likely pathogenic ★★ same condition
- CSNK2B c.291+1G>A Pathogenic/Likely pathogenic ★★ same condition
- CSNK2B c.291+1G>T Likely pathogenic ★★ same condition
- CSNK2B c.292-2A>C Pathogenic/Likely pathogenic ★★ same condition
- CSNK2B c.292-2A>G Pathogenic/Likely pathogenic ★★ same condition
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/csnk2b-p-phe22del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown