DRD2 c.285+191C>T
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 38.7%, eas) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| Splice region | donor +191 | deep intronic (+191 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.59 | GERP -3.3 |
| Non-coding constraint | Z 2.71 | 1 kb window · o/e 0.69 · regional · uncalibrated |
| Overall | ||
| CADD | 0.476 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
38.7%
East Asian · 2,003/5,174 alleles
Filtering AF
37.3%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 36.7%
Overall
4.56%
6,943/152,286 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 38.7% | 3 |
| Finnishnot grpmax-eligible | 13.1% | 8 |
| Admixed American | 7.07% | 14 |
| African / African-American | 4.58% | 22 |
| Remaining individualsnot grpmax-eligible | 3.64% | 27 |
| South Asian | 2.84% | 35 |
| Ashkenazi Jewishnot grpmax-eligible | 1.44% | 69 |
| Amishnot grpmax-eligible | 0.549% | 182 |
| European (non-Finnish) | 0.432% | 231 |
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
- DRD2
- Coding
- c.285+191C>T
- MANE Select
- NM_000795
- dbSNP
- rs2075652
- Type
- single nucleotide variant
- Location
- chr11:113424176 (GRCh38)
- Gene constraint
- LOEUF 0.372 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 72.49 · 11 PDB
Similar variants
- DRD2 p.Arg274Gln Uncertain significance ★★ ⚠ same type
- DRD2 p.Gln366Lys Uncertain significance ★★ ⚠ same type
- DRD2 p.Glu99Lys Uncertain significance ★★ ⚠ same type
- DRD2 p.Gly261Arg Uncertain significance ★★ ⚠ same type
- DRD2 p.His316Pro Uncertain significance ★★ ⚠ same type
- DRD2 p.Ile431Thr Uncertain significance ★★ ⚠ same type
- DRD2 p.Pro300His Uncertain significance ★★ ⚠ same type
- DRD2 p.Val223Ile 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/drd2-c-285-plus-191c-t (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown