Is DRD3 p.Gln329= (c.987A>G) pathogenic?

DRD3 p.Gln329= (c.987A>G) is classified Benign in DRD3 (ClinVar, Multiple submitters, 3 submitters; last evaluated 2019-12-31). Low-frequency (popmax 4.47%, afr); Associated with tremor, hereditary essential, 1.

What condition is associated with DRD3 p.Gln329= (c.987A>G)?

DRD3 p.Gln329= (c.987A>G) is associated with tremor, hereditary essential, 1 (ClinVar).

How common is DRD3 p.Gln329= (c.987A>G) in the general population?

DRD3 p.Gln329= (c.987A>G) is low-frequency (popmax 4.47%, afr) (gnomAD).

DRD3 p.Gln329=

c.987A>G · rs61735073 · VCV342596

Benign Multiple submitters

Classification

Benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 3 submitters

gnomAD v4.1

Rare

low-frequency (popmax 4.47%, afr)

Conditions

tremor, hereditary essential, 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.027	moderately benign-leaning
Splicing
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 1.8	GERP -2.2, phastCons 1
Overall
CADD	7.34	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 4.47% African / African-American · 3,354/75,038 alleles

Filtering AF 4.34% ClinGen BA1/BS1 input FAF95, joint · FAF99 4.29%

Overall 0.331% 5,348/1,613,948 alleles · low-frequency

Ancestry group	Frequency	1 in
African / African-Americangrpmax	4.47%	22
East Asian	1.34%	74
South Asian	0.871%	115
Middle Eastern	0.512%	195
Remaining individualsnot grpmax-eligible	0.498%	201
Admixed American	0.277%	362
European (non-Finnish)	0.00746%	13,407
Ashkenazi Jewishnot grpmax-eligible	0.00676%	14,802

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
Protein: p.Gln329=
Coding: c.987A>G
MANE Select: NM_000796
dbSNP: rs61735073
Type: single nucleotide variant
Location: chr3:114131137 (GRCh38)
Gene constraint: LOEUF 0.604 · pLI 0.66 (gnomAD)
Structure: AlphaFold pLDDT 75.70 · 9 PDB
Residue 329: an α-helix

Full DRD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

tremor, hereditary essential, 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

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.Gly9Ser Benign/Likely benign ★★ same condition
DRD3 p.His359= Benign/Likely benign ★★ same condition
DRD3 p.Pro135His Uncertain significance ★ ⚠ 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-p-gln329 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown