Is WAS p.Pro162fs (c.482dup) pathogenic?

WAS p.Pro162fs (c.482dup) is classified Pathogenic in WAS (ClinVar, No assertion criteria, 1 submitter; last evaluated 1995-04-01). No gnomAD frequency available for this variant; Associated with thrombocytopenia 1.

What condition is associated with WAS p.Pro162fs (c.482dup)?

WAS p.Pro162fs (c.482dup) is associated with thrombocytopenia 1 (ClinVar).

How common is WAS p.Pro162fs (c.482dup) in the general population?

WAS p.Pro162fs (c.482dup) is no gnomAD frequency available for this variant (gnomAD).

WAS p.Pro162fs

c.482dup · rs2519281397 · VCV11118

Pathogenic No assertion criteria

Classification

Pathogenic

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

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 5 of 12
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 0.33	GERP -0.97, phastCons 0.54

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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.Pro162fs
Coding: c.482dup
MANE Select: NM_000377
dbSNP: rs2519281397
Type: Duplication
Location: chrX:48685959 (GRCh38)
Structure: AlphaFold pLDDT 70.84 · 7 PDB
Residue 162: the 'disordered' region

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

Disease context

thrombocytopenia 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

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.Ala217fs Pathogenic ★ same condition
WAS p.Arg138fs 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-pro162fs (accessed [today's date]).

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