WT1 p.Ser338Arg
c.1012A>C · rs1852674776 · VCV957971
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
4
Wilms tumor 1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.192 | benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · T>C here scores Δ0.47 · evaluated, not missing |
| Constraint at this position | ||
| Conservation | phyloP 4.9 | GERP 1.6, phastCons 1 |
| Regional constraint | o/e 0.93 | unconstrained · MANE · 39 kb · p 0.077 · regional, not allelic |
| Overall | ||
| CADD | 24.1 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- WT1
- Protein
- p.Ser338Arg
- Coding
- c.1012A>C
- MANE Select
- NM_024426
- dbSNP
- rs1852674776
- Type
- single nucleotide variant
- Location
- chr11:32416494 (GRCh38)
- Gene constraint
- LOEUF 0.253 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 52.09 · 31 PDB
- Residue 338
- an α-helix
Similar variants
- WT1 p.Ser338Asn Conflicting classifications of pathogenicity ★ same residue
- WT1 p.Ser338Gly Uncertain significance ★ same residue
- WT1 c.1354+2T>C Pathogenic/Likely pathogenic ★★ same condition
- WT1 c.1447+2T>C Pathogenic ★★ same condition
- WT1 c.1447+4C>T Pathogenic/Likely pathogenic ★★ same condition
- WT1 c.1447+5G>A Pathogenic/Likely pathogenic ★★ same condition
- WT1 c.1448-1G>A Pathogenic/Likely pathogenic ★★ same condition
- WT1 p.Arg374Ter 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/wt1-p-ser338arg (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown