DRG2 p.Ile229=
c.687C>T · rs34767270 · VCV714857
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
rare (popmax 0.63%, afr)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · C>A here scores Δ0.25 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -6.2 | GERP -3 |
| Overall | ||
| CADD | 6.47 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.63%
African / African-American · 473/75,034 alleles
Filtering AF
0.583%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.565%
Overall
0.033%
532/1,614,148 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.63% | 159 |
| Remaining individualsnot grpmax-eligible | 0.0352% | 2,841 |
| Admixed American | 0.03% | 3,335 |
| East Asian | 0.0156% | 6,411 |
| South Asian | 0.0022% | 45,542 |
| European (non-Finnish) | 0.000847% | 118,003 |
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
- DRG2
- Protein
- p.Ile229=
- Coding
- c.687C>T
- MANE Select
- NM_001388
- dbSNP
- rs34767270
- Type
- single nucleotide variant
- Location
- chr17:18101548 (GRCh38)
- Gene constraint
- LOEUF 0.932 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.40
- Residue 229
- the obg-type g domain
Similar variants
- DRG2 p.Ile359= Benign ★★ same type
- DRG2 p.Ala135Ser Uncertain significance ★ ⚠ same type
- DRG2 p.Ala137Val Uncertain significance ★ ⚠ same type
- DRG2 p.Ala260Val Uncertain significance ★ ⚠ same type
- DRG2 p.Ala306Thr Uncertain significance ★ ⚠ same type
- DRG2 p.Ala32Val Uncertain significance ★ ⚠ same type
- DRG2 p.Ala35Thr Uncertain significance ★ ⚠ same type
- DRG2 p.Ala63Val 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/drg2-p-ile229 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown