Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
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 -0.38 | GERP -3.2 |
| Non-coding constraint | Z 3.46 | 1 kb window · o/e 0.77 · regional · uncalibrated |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- DRD1
- Coding
- c.-48=
- MANE Select
- NM_000794
- dbSNP
- rs4532
- Type
- single nucleotide variant
- Location
- chr5:175443147 (GRCh38)
- Gene constraint
- LOEUF 0.252 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.23 · 34 PDB
Similar variants
- DRD1 c.-48G>A Likely benign ★★ same type
- DRD1 p.Ala147Thr Uncertain significance ★ ⚠ same type
- DRD1 p.Ala166Thr Uncertain significance ★ ⚠ same type
- DRD1 p.Ala410Ser Uncertain significance ★ ⚠ same type
- DRD1 p.Ala67Ser Uncertain significance ★ ⚠ same type
- DRD1 p.Arg52Pro Uncertain significance ★ ⚠ same type
- DRD1 p.Asn185Lys Uncertain significance ★ ⚠ same type
- DRD1 p.Cys253Ser 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/drd1-c-minus-48 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown