Is ACTG1 p.Asp24= (c.72C>T) pathogenic?

ACTG1 p.Asp24= (c.72C>T) is classified Benign/Likely benign in ACTG1 (ClinVar, Multiple submitters, 11 submitters; last evaluated 2025-12-24). Rare (popmax 0.217%, afr); Associated with autosomal dominant nonsyndromic hearing loss 20.

How common is ACTG1 p.Asp24= (c.72C>T) in the general population?

ACTG1 p.Asp24= (c.72C>T) is rare (popmax 0.217%, afr) (gnomAD).

ACTG1 p.Asp24=

Q: What condition is associated with ACTG1 p.Asp24= (c.72C>T)?

ACTG1 p.Asp24= (c.72C>T) is associated with autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2 (ClinVar).

c.72C>T · rs139517777 · VCV227169

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 11 submitters

gnomAD v4.1

Rare

rare (popmax 0.217%, afr)

Conditions

autosomal dominant nonsyndromic hearing loss 20

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP -0.068	GERP -3, phastCons 0.072
Overall
CADD	6.096	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.217% African / African-American · 163/75,030 alleles

Filtering AF 0.19% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.18%

Overall 0.0794% 1,281/1,613,780 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.217%	460
South Asian	0.109%	920
European (non-Finnish)	0.0825%	1,211
Middle Eastern	0.0825%	1,212
Remaining individualsnot grpmax-eligible	0.0384%	2,604
Admixed American	0.0233%	4,287
Finnishnot grpmax-eligible	0.00314%	31,894

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: ACTG1
Protein: p.Asp24=
Coding: c.72C>T
dbSNP: rs139517777
Type: single nucleotide variant
Location: chr17:81512283 (GRCh38)

Full ACTG1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

autosomal dominant nonsyndromic hearing loss 20 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: Baraitser-winter syndrome 2

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/actg1-p-asp24 (accessed [today's date]).

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