DRD3 c.-252C>T
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 2.76%, sas)
Conditions
1
tremor, hereditary essential, 1
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 4.3 | GERP 1.9, phastCons 1 |
| Non-coding constraint | Z 0.01 | 1 kb window · o/e 1.00 · regional · uncalibrated |
| Overall | ||
| CADD | 14.78 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
2.76%
South Asian · 133/4,826 alleles
Filtering AF
2.37%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 2.23%
Overall
0.264%
402/152,250 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 2.76% | 36 |
| Middle Eastern | 0.68% | 147 |
| Remaining individualsnot grpmax-eligible | 0.474% | 211 |
| European (non-Finnish) | 0.3% | 333 |
| Ashkenazi Jewishnot grpmax-eligible | 0.288% | 347 |
| Admixed American | 0.118% | 849 |
| Finnishnot grpmax-eligible | 0.0472% | 2,120 |
| African / African-American | 0.0457% | 2,186 |
| East Asian | 0.0193% | 5,186 |
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
- DRD3
- Coding
- c.-252C>T
- MANE Select
- NM_000796
- dbSNP
- rs36211803
- Type
- single nucleotide variant
- Location
- chr3:114178873 (GRCh38)
- Gene constraint
- LOEUF 0.604 · pLI 0.66 (gnomAD)
- Structure
- AlphaFold pLDDT 75.70 · 9 PDB
Similar variants
- DRD3 c.-105G>A Likely benign ★★ same condition
- DRD3 c.-333G>A Benign ★★ same condition
- DRD3 p.Ala17= Benign ★★ same condition
- DRD3 p.Ala38Thr Likely benign ★★ same condition
- DRD3 p.Gln240= Benign ★★ same condition
- DRD3 p.Gln329= Benign ★★ same condition
- DRD3 p.Gly9Ser Benign/Likely benign ★★ same condition
- DRD3 p.His359= Benign/Likely benign ★★ same condition
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/drd3-c-minus-252c-t (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown