Is WAS p.130DE[3] (c.389ACGAGG[3]) pathogenic?

WAS p.130DE[3] (c.389ACGAGG[3]) is classified Pathogenic in WAS (ClinVar, No assertion criteria, 1 submitter; last evaluated 2001-07-17). No gnomAD frequency available for this variant; Associated with Wiskott-Aldrich syndrome.

What condition is associated with WAS p.130DE[3] (c.389ACGAGG[3])?

WAS p.130DE[3] (c.389ACGAGG[3]) is associated with Wiskott-Aldrich syndrome (ClinVar).

How common is WAS p.130DE[3] (c.389ACGAGG[3]) in the general population?

WAS p.130DE[3] (c.389ACGAGG[3]) 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.130DE[3]

c.389ACGAGG[3] · rs587776743 · VCV11121

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

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 -0.52	GERP -3.1

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.130DE[3]
Coding: c.389ACGAGG[3]
MANE Select: NM_000377
dbSNP: rs587776743
Type: Microsatellite
Location: chrX:48685760 (GRCh38)
Structure: AlphaFold pLDDT 70.84 · 7 PDB

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

For Wiskott-Aldrich syndrome (Orphanet):

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

Similar variants

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WAS c.509_510del Likely pathogenic ★ same condition
WAS c.560-3_560-2del Likely pathogenic ★ same condition
WAS p.Arg151fs Pathogenic ★ same condition
WAS p.Leu35_Phe36insTer Pathogenic ★ same condition
WAS p.494ED[1] Uncertain significance ★ same condition
WAS p.Gly323del Uncertain significance ★ 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-130de-3 (accessed [today's date]).

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