Is WAS p.Ala136Val (c.407_408delinsTT) pathogenic?

WAS p.Ala136Val (c.407408delinsTT) is classified Uncertain significance in WAS (ClinVar, Single submitter, 1 submitter; last evaluated 2021-08-09). No gnomAD frequency available for this variant.

How common is WAS p.Ala136Val (c.407_408delinsTT) in the general population?

WAS p.Ala136Val (c.407_408delinsTT) is no gnomAD frequency available for this variant (gnomAD).

WAS p.Ala136Val

c.407_408delinsTT · rs2147263947 · VCV1338049

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

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 1.4	GERP 0.5, phastCons 1
Regional constraint	o/e 0.52	unconstrained · MANE · 1,973 bp · p 1.3e-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.Ala136Val
Coding: c.407_408delinsTT
MANE Select: NM_000377
dbSNP: rs2147263947
Type: Indel
Location: chrX:48685780 (GRCh38)
Structure: AlphaFold pLDDT 70.84 · 7 PDB
Residue 136: the wh1 domain

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

Similar variants

WAS p.Gly14Arg Uncertain significance ★★ same type
WAS p.Asp498_Trp500delinsGluAspGlu Likely pathogenic ★ same type
WAS p.Phe36fs Likely pathogenic ★ same type
WAS p.Tyr54_Leu55delinsAsnLeuAlaLeuProPro Likely pathogenic ★ same type
WAS p.Gly251Glu Uncertain significance ★ same type
WAS p.Leu425_Ala426delinsProGly Uncertain significance ★ same type
WAS p.Pro189Arg Uncertain significance ★ same type

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-ala136val (accessed [today's date]).

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