ATRIP c.247+3del
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +3 | donor splice region (+3, within the first 6 intronic nt) · inside the BP7-excluded zone |
|---|---|---|
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 5.5 | GERP 0.83, phastCons 1 |
| Non-coding constraint | Z 2.48 | 1 kb window · o/e 0.82 · regional · uncalibrated |
Variant & gene context
- Gene
- ATRIP
- Coding
- c.247+3del
- MANE Select
- NM_130384
- Type
- Deletion
- Location
- chr3:48447095 (GRCh38)
- Gene constraint
- LOEUF 0.707 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.10 · 24 PDB
Similar variants
- TREX1 p.Ala139fs Pathogenic/Likely pathogenic ★★ same type
- TREX1 p.Ile207fs Pathogenic/Likely pathogenic ★★ same type
- TREX1 p.Pro212fs Pathogenic/Likely pathogenic ★★ same type
- TREX1 p.Pro290_Ala295del Pathogenic/Likely pathogenic ★★ same type
- TREX1 p.Thr49fs Pathogenic/Likely pathogenic ★★ same type
- ATRIP p.Leu496_Leu497del Uncertain significance ★★ same type
- ATRIP p.Thr384_Gly385insTer Uncertain significance ★★ same type
- TREX1 p.Tyr305fs 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-c-247-plus-3del (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown