Is ARHGDIA p.Asp183= (c.549C>T) pathogenic?

ARHGDIA p.Asp183= (c.549C>T) is classified Benign/Likely benign in ARHGDIA (ClinVar, Multiple submitters, 2 submitters; last evaluated 2026-01-25). Rare (popmax 0.615%, afr).

How common is ARHGDIA p.Asp183= (c.549C>T) in the general population?

ARHGDIA p.Asp183= (c.549C>T) is rare (popmax 0.615%, afr) (gnomAD).

ARHGDIA p.Asp183=

c.549C>T · rs114505631 · VCV2077007

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 2 submitters

gnomAD v4.1

Rare

rare (popmax 0.615%, afr)

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 -1.5	GERP -5
Overall
CADD	9.974	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.615% African / African-American · 461/74,982 alleles

Filtering AF 0.568% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.55%

Overall 0.0333% 537/1,613,816 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.615%	163
Admixed American	0.0583%	1,715
Remaining individualsnot grpmax-eligible	0.0368%	2,718
Middle Eastern	0.0165%	6,062
East Asian	0.00223%	44,880
European (non-Finnish)	0.00136%	73,749

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: ARHGDIA
Protein: p.Asp183=
Coding: c.549C>T
MANE Select: NM_004309
dbSNP: rs114505631
Type: single nucleotide variant
Location: chr17:81868942 (GRCh38)
Gene constraint: LOEUF 0.606 · pLI 0.77 (gnomAD)
Structure: AlphaFold pLDDT 90.62 · 21 PDB

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

Similar variants

ARHGDIA c.*243G>A Uncertain significance ★★ same type
ARHGDIA p.Ser62Phe Uncertain significance ★★ ⚠ same type
ARHGDIA c.274+14G>A Benign/Likely benign ★★ same type
ARHGDIA c.351+43G>A Benign ★★ same type
ARHGDIA c.416-4G>A Likely benign ★★ same type
ARHGDIA p.Asp184= Benign/Likely benign ★★ same type
ARHGDIA p.Ile35= Likely benign ★★ same type
ARHGDIA c.275-20G>T Conflicting classifications of pathogenicity ★ 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/arhgdia-p-asp183 (accessed [today's date]).

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