Is WAS p.Pro189Arg (c.565_566delinsAG) pathogenic?

WAS p.Pro189Arg (c.565566delinsAG) is classified Uncertain significance in WAS (ClinVar, Single submitter, 1 submitter; last evaluated 2018-06-06). No gnomAD frequency available for this variant; Associated with Wiskott-Aldrich syndrome.

What condition is associated with WAS p.Pro189Arg (c.565_566delinsAG)?

WAS p.Pro189Arg (c.565_566delinsAG) is associated with Wiskott-Aldrich syndrome, X-linked severe congenital neutropenia, thrombocytopenia 1 (ClinVar).

How common is WAS p.Pro189Arg (c.565_566delinsAG) in the general population?

WAS p.Pro189Arg (c.565_566delinsAG) is no gnomAD frequency available for this variant (gnomAD).

How is Wiskott-Aldrich syndrome inherited?

Typically Autosomal dominant, Autosomal recessive (Orphanet). A genetic counselor can assess individual risk for a family.

WAS p.Pro189Arg

c.565_566delinsAG · rs1569493862 · VCV566949

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

Wiskott-Aldrich 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 0.16	GERP -0.81, phastCons 0.5
Regional constraint	o/e 0.56	unconstrained · MANE · 2,597 bp · p 6e-07 · regional, not allelic

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: WAS
Protein: p.Pro189Arg
Coding: c.565_566delinsAG
MANE Select: NM_000377
dbSNP: rs1569493862
Type: Indel
Location: chrX:48686786 (GRCh38)
Structure: AlphaFold pLDDT 70.84 · 7 PDB
Residue 189: the 'disordered' region

Full WAS gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Wiskott-Aldrich syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: X-linked severe congenital neutropenia thrombocytopenia 1

For Wiskott-Aldrich syndrome (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Not applicable
Onset: Infancy, Neonatal
Prevalence: 1-9 / 1 000 000 (Europe)

Similar variants

WAS p.Gly14Arg Uncertain significance ★★ same condition
WAS p.Phe36fs Likely pathogenic ★ same condition
WAS p.Leu425_Ala426delinsProGly Uncertain significance ★ same condition
WAS c.1339-2A>G Pathogenic/Likely pathogenic ★★ same condition
WAS c.1453+2T>C Pathogenic ★★ same condition
WAS c.273+1G>A Pathogenic ★★ same condition
WAS c.360+1G>A Pathogenic ★★ same condition
WAS c.466_469del 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-pro189arg (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown