Is ACTC1 p.Phe92del (c.275_277del) pathogenic?

ACTC1 p.Phe92del (c.275277del) is classified Conflicting classifications of pathogenicity in ACTC1 (ClinVar, Conflicting submitters, 4 submitters; last evaluated 2025-07-23). No gnomAD frequency available for this variant; Associated with hypertrophic cardiomyopathy 11.

What condition is associated with ACTC1 p.Phe92del (c.275_277del)?

ACTC1 p.Phe92del (c.275_277del) is associated with hypertrophic cardiomyopathy 11, atrial septal defect 5, dilated cardiomyopathy 1R (ClinVar).

How common is ACTC1 p.Phe92del (c.275_277del) in the general population?

ACTC1 p.Phe92del (c.275_277del) is no gnomAD frequency available for this variant (gnomAD).

ACTC1 p.Phe92del

c.275_277del · rs730880388 · VCV180753

Conflicting classifications of pathogenicity Conflicting submitters

Classification

Conflicting classifications of pathogenicity

ClinVar

Review

Conflicting submitters ★☆☆☆

ClinVar · 4 submitters

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

hypertrophic cardiomyopathy 11

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 6.2	GERP 2.3, phastCons 1

Population frequency

dbSNP / gnomAD

No gnomAD frequency available for this variant. This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: ACTC1
Protein: p.Phe92del
Coding: c.275_277del
MANE Select: NM_005159
dbSNP: rs730880388
Type: Deletion
Location: chr15:34793422 (GRCh38)
Gene constraint: LOEUF 0.511 · pLI 0.97 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 95.47 · 16 PDB
Residue 92: an α-helix

Full ACTC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

hypertrophic cardiomyopathy 11 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Also linked: atrial septal defect 5 dilated cardiomyopathy 1R

Similar variants

ACTC1 p.Asp186fs Uncertain significance ★★ same condition
ACTC1 c.991-10_991-8del Likely benign ★★ same condition
ACTC1 c.119_129+14del Uncertain significance ★ same condition
ACTC1 c.616+4_616+7del Uncertain significance ★ same condition
ACTC1 c.991-2del Uncertain significance ★ same condition
ACTC1 p.Gly148fs Uncertain significance ★ same condition
ACTC1 p.Gly345fs Uncertain significance ★ same condition
ACTC1 p.Pro324fs 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/actc1-p-phe92del (accessed [today's date]).

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