WAC p.Pro512fs
c.1533_1534del · VCV4906970
Likely pathogenic
Single submitter
Classification
Likely pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
WAC-related disorder
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 haploinsufficient gene (ClinGen) |
|---|---|---|
| NMD | predicted | premature termination codon in exon 11 of 14 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.8 | GERP -0.62, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- WAC
- Protein
- p.Pro512fs
- Coding
- c.1533_1534del
- MANE Select
- NM_016628
- Type
- Microsatellite
- Location
- chr10:28614658 (GRCh38)
- Gene constraint
- LOEUF 0.248 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 55.71
- Residue 512
- a UniProt-annotated variant site (found in a patient with severe intellectual disability; likely pathogenic); the 'disordered' region
Disease context
WAC-related disorder
Similar variants
- WAC p.Arg85fs Pathogenic ★★ same condition
- WAC p.Gln492fs Pathogenic ★ same condition
- WAC p.Pro512Leu Likely benign ★ same residue
- WAC p.Gln170Ter Pathogenic ★★ same condition
- WAC p.Ser222Tyr Uncertain significance ★★ ⚠ same condition
- WAC p.Ala201fs Likely pathogenic ★ same condition
- WAC p.Arg47fs Likely pathogenic ★ same condition
- WAC p.Gln504Ter 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/wac-p-pro512fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown