Is DRD5 c.*47T>C pathogenic?

DRD5 c.47T>C is classified Conflicting classifications of pathogenicity in DRD5 (ClinVar, Conflicting submitters, 3 submitters; last evaluated 2021-06-18). Common (popmax 64.4%, nfe) — too common for a highly-penetrant pathogenic allele; Associated with hereditary attention deficit-hyperactivity disorder.

What condition is associated with DRD5 c.*47T>C?

DRD5 c.*47T>C is associated with hereditary attention deficit-hyperactivity disorder (ClinVar).

DRD5 c.*47T>C

Q: How common is DRD5 c.*47T>C in the general population?

DRD5 c.*47T>C is common (popmax 64.4%, nfe) — too common for a highly-penetrant pathogenic allele (gnomAD).

rs1967551 · VCV1287057

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 3 submitters

gnomAD v4.1

Common

common (popmax 64.4%, nfe) — too common for a highly-penetrant pathogenic allele

Conditions

hereditary attention deficit-hyperactivity disorder

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 -0.4	GERP -2.9
Non-coding constraint	Z 0.10	1 kb window · o/e 0.99 · regional · uncalibrated
Overall
CADD	1.174	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 64.4% European (non-Finnish) · 726,264/1,128,044 alleles

Filtering AF 64.3% ClinGen BA1/BS1 input FAF95, joint · FAF99 64.2%

Overall 60.8% 927,336/1,525,428 alleles · common

Ancestry group	Frequency	1 in
Ashkenazi Jewishnot grpmax-eligible	68.5%	1
European (non-Finnish)grpmax	64.4%	2
Finnishnot grpmax-eligible	61.3%	2
Middle Eastern	59.8%	2
Remaining individualsnot grpmax-eligible	58.5%	2
Amishnot grpmax-eligible	55.5%	2
Admixed American	53.8%	2
South Asian	46.7%	2
African / African-American	39.1%	3
East Asian	36%	3

Ashkenazi Jewish shows a higher raw frequency than the grpmax group above it. gnomAD excludes bottlenecked groups — Finnish, Ashkenazi Jewish, Amish and “Remaining individuals” — from grpmax, because founder effects make their frequencies unrepresentative for filtering. The table is sorted by frequency, so an excluded group can sit above the grpmax row.

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: DRD5
Coding: c.*47T>C
MANE Select: NM_000798
dbSNP: rs1967551
Type: single nucleotide variant
Location: chr4:9783510 (GRCh38)
Gene constraint: LOEUF 1.851 · pLI 0.09 · ClinGen HI 0/3 (gnomAD)
Structure: AlphaFold pLDDT 69.45 · 1 PDB

Full DRD5 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hereditary attention deficit-hyperactivity disorder — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

DRD5 p.Pro326= Conflicting classifications of pathogenicity ★ same condition
DRD5 p.Val59Met Uncertain significance ★★ ⚠ same type
DRD5 c.-226G>C Benign ★★ same type
DRD5 c.*178G>T Benign ★★ same type
DRD5 p.Leu88Phe Benign ★★ ⚠ same type
DRD5 p.Ala10Val Uncertain significance ★ ⚠ same type
DRD5 p.Ala111Glu Uncertain significance ★ ⚠ same type
DRD5 p.Ala164Glu 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/drd5-c-star-47t-c (accessed [today's date]).

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