ATRIP p.Arg161del
c.478AGA[1] · VCV4644556
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00223%, eas)
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 2.1 | GERP -3.6, phastCons 1 |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00223%
East Asian · 1/44,864 alleles
Overall
6.85e-05%
1/1,460,774 alleles · very rare
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ATRIP
- Protein
- p.Arg161del
- Coding
- c.478AGA[1]
- MANE Select
- NM_130384
- Type
- Microsatellite
- Location
- chr3:48451825 (GRCh38)
- Gene constraint
- LOEUF 0.707 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.10 · 24 PDB
Similar variants
- ATRIP p.Arg161Gly Uncertain significance ★ ⚠ same residue
- TREX1 p.Ala72fs Pathogenic/Likely pathogenic ★★ same type
- TREX1 p.Gln51fs Pathogenic/Likely pathogenic ★★ same type
- TREX1 p.Ser82fs Pathogenic/Likely pathogenic ★★ same type
- ATRIP p.Glu134del Uncertain significance ★★ same type
- ATRIP p.Leu634_Leu635del Uncertain significance ★★ same type
- TREX1 p.Thr56fs Likely pathogenic ★ same type
- ATRIP p.Ala374fs 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/atrip-p-arg161del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown