Is ACTG2 c.255+210C>G pathogenic?

ACTG2 c.255+210C>G is classified Uncertain significance in ACTG2 (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-09-30). Absent from gnomAD v4.1; Associated with visceral myopathy 1.

What condition is associated with ACTG2 c.255+210C>G?

ACTG2 c.255+210C>G is associated with visceral myopathy 1 (ClinVar).

How common is ACTG2 c.255+210C>G in the general population?

ACTG2 c.255+210C>G is absent from gnomAD v4.1 (gnomAD).

How is Familial visceral myopathy inherited?

Typically Autosomal dominant (Orphanet). A genetic counselor can assess individual risk for a family.

ACTG2 c.255+210C>G

rs768290597 · VCV694318

Uncertain significance No assertion criteria

Classification

Uncertain significance

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Absent

absent from gnomAD v4.1

Conditions

visceral myopathy 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
REVEL	0.244	benign-leaning
Splicing
Splice region	donor +210	deep intronic (+210 nt into the intron)
SpliceAI	—	not assessed · no allele here is in the release
Constraint at this position
Conservation	phyloP 0.74	GERP 1.2, phastCons 0.001
Non-coding constraint	Z 2.23	1 kb window · o/e 0.77 · regional · uncalibrated
Overall
CADD	14.69	PHRED · no single calibrated threshold — expert panels disagree

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: ACTG2
Coding: c.255+210C>G
MANE Select: NM_001615
dbSNP: rs768290597
Type: single nucleotide variant
Location: chr2:73902698 (GRCh38)
Gene constraint: LOEUF 0.626 · pLI 0.28 (gnomAD)
Structure: AlphaFold pLDDT 95.46 · 4 PDB

Full ACTG2 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

visceral myopathy 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial visceral myopathy (Orphanet):

Inheritance: Autosomal dominant
Onset: All ages

Similar variants

ACTG2 p.Ala205Thr Pathogenic ★★ same condition
ACTG2 p.Arg148Cys Likely pathogenic ★★ same condition
ACTG2 p.Arg178Cys Pathogenic ★★ same condition
ACTG2 p.Arg178His Pathogenic ★★ same condition
ACTG2 p.Arg178Leu Pathogenic ★★ same condition
ACTG2 p.Arg211Gln Pathogenic/Likely pathogenic ★★ same condition
ACTG2 p.Arg257Cys Pathogenic ★★ same condition
ACTG2 p.Arg257His Pathogenic ★★ 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/actg2-c-255-plus-210c-g (accessed [today's date]).

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