WAS p.Ala217fs
c.647dup · VCV4783870
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
3
thrombocytopenia 1
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 7 of 12 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 7.8 | GERP 0.59, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- WAS
- Protein
- p.Ala217fs
- Coding
- c.647dup
- MANE Select
- NM_000377
- Type
- Duplication
- Location
- chrX:48686865 (GRCh38)
- Structure
- AlphaFold pLDDT 70.84 · 7 PDB
- Residue 217
- the 'disordered' region
Similar variants
- WAS p.Ala217Glu Uncertain significance ★ ⚠ same residue
- WAS p.Arg13fs Pathogenic ★★ same condition
- WAS p.Pro402_Pro404dup Uncertain significance ★★ same condition
- WAS c.273+10_273+11dup Benign/Likely benign ★★ same condition
- WAS c.273+11dup Benign/Likely benign ★★ same condition
- WAS c.273+9_273+11dup Likely benign ★★ same condition
- WAS c.560-5dup Benign/Likely benign ★★ same condition
- WAS p.Ala374fs 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/was-p-ala217fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown