ATRIP p.Gly27=
c.81G>C · rs1203207297 · VCV740579
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
very rare (popmax 0.00192%, nfe)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.96 | GERP -3.9, phastCons 0.68 |
| Overall | ||
| CADD | 5.803 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00192%
European (non-Finnish) · 21/1,091,572 alleles
Filtering AF
0.00124%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00105%
Overall
0.00154%
22/1,426,688 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.00192% | 51,980 |
| South Asian | 0.00157% | 63,604 |
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.Gly27=
- Coding
- c.81G>C
- MANE Select
- NM_130384
- dbSNP
- rs1203207297
- Type
- single nucleotide variant
- Location
- chr3:48446926 (GRCh38)
- Gene constraint
- LOEUF 0.707 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 70.10 · 24 PDB
- Residue 27
- the 'disordered' region
Similar variants
- TREX1 p.Ser27Phe Uncertain significance ★★ ⚠ same residue
- ATRIP p.Gly27Glu Uncertain significance ★ ⚠ same residue
- ATRIP p.Gly27Arg Likely benign ★ same residue
- TREX1 p.Ser27_Thr32del Likely pathogenic same residue
- TREX1 p.Arg114His Pathogenic/Likely pathogenic ★★ ⚠ same type
- TREX1 p.Arg164Ter Pathogenic/Likely pathogenic ★★ same type
- TREX1 p.Asp18Asn Pathogenic ★★ same type
- TREX1 p.Asp200His Likely pathogenic ★★ 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-gly27 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown