ARX p.Ala155del
c.463_465del · rs2147324134 · VCV1285808
Benign
Single submitter
Classification
Benign
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 7.7 | GERP -0.92, phastCons 1 |
| Region caveats | ||
| Repeat context | tandem | GGCCGCGGCGGCCGC simple repeat · ambiguous alignment · confidence, not pathogenicity |
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
- ARX
- Protein
- p.Ala155del
- Coding
- c.463_465del
- MANE Select
- NM_139058
- dbSNP
- rs2147324134
- Type
- Deletion
- Location
- chrX:25013530 (GRCh38)
- Structure
- AlphaFold pLDDT 56.51
- Residue 155
- a UniProt-annotated variant site (in dee1 and prts; also found in non-specific intellectual disability families; frequent variant); the 'disordered' region
Similar variants
- ARX p.Ala155_Trp156insAlaAla Uncertain significance ★ same residue
- ARX p.Ala155_Trp156insAlaAlaAlaAlaAla Uncertain significance ★ same residue
- ARX p.Gly120fs Pathogenic ★★ same type
- ARX p.Gly197fs Pathogenic/Likely pathogenic ★★ same type
- ARX p.Leu491fs Pathogenic ★★ same type
- ARX p.Pro490_Leu491insTer Pathogenic ★★ same type
- ARX p.240EEELLEDD[1] Uncertain significance ★★ same type
- ARX p.Ala110_Ala115del 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/arx-p-ala155del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown