WEE2 p.His337fs
c.1007_1008dup · VCV4796631
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
oocyte maturation defect 5
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Consequence | frameshift | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 6 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 12 | GERP 5.5, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- WEE2
- Protein
- p.His337fs
- Coding
- c.1007_1008dup
- MANE Select
- NM_001105558
- Type
- Duplication
- Location
- chr7:141723259 (GRCh38)
- Gene constraint
- LOEUF 1.031 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 67.50 · 1 PDB
- Residue 337
- the protein kinase domain
Similar variants
- WEE2 p.Thr493fs Pathogenic same condition
- WEE2 p.Glu75fs Pathogenic/Likely pathogenic ★★ same condition
- WEE2 p.Tyr163His Uncertain significance ★ ⚠ same condition
- WEE2 p.Arg200Ter Pathogenic same condition
- WEE2 p.Arg410Trp Pathogenic ⚠ same condition
- WEE2 p.Asp234His Pathogenic same condition
- WEE2 p.Glu407= Pathogenic same condition
- WEE2 c.540-11dup Likely benign ★ 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/wee2-p-his337fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown