Is ACTC1 c.129+17del pathogenic?

ACTC1 c.129+17del is classified Benign in ACTC1 (ClinVar, Single submitter, 1 submitter; last evaluated 2012-12-27). Absent from gnomAD; Associated with cardiomyopathy.

What condition is associated with ACTC1 c.129+17del?

ACTC1 c.129+17del is associated with cardiomyopathy (ClinVar).

How common is ACTC1 c.129+17del in the general population?

ACTC1 c.129+17del is absent from gnomAD (gnomAD).

ACTC1 c.129+17del

rs730880386 · VCV180749

Benign Single submitter

Classification

Benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

cardiomyopathy

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
Splice region	donor +17	near-intronic (+17 nt from the splice site)
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 2.3	GERP -1.1, phastCons 0.028
Non-coding constraint	Z 1.91	1 kb window · o/e 0.87 · regional · uncalibrated

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
Coding: c.129+17del
MANE Select: NM_005159
dbSNP: rs730880386
Type: Deletion
Location: chr15:34794663 (GRCh38)
Gene constraint: LOEUF 0.511 · pLI 0.97 · ClinGen HI 1/3 (gnomAD)
Structure: AlphaFold pLDDT 95.47 · 16 PDB

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

Disease context

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

Similar variants

ACTC1 c.991-10_991-8del Likely benign ★★ same condition
ACTC1 p.Glu169fs Uncertain significance ★ same condition
ACTC1 p.Val211_Ile214del Uncertain significance ★ same condition
ACTC1 c.617-12_617-11del Likely benign ★ same condition
ACTC1 c.809-12_809-11del Likely benign ★ same condition
ACTC1 p.Glu101Lys Pathogenic ★★★ same condition
ACTC1 p.Val56Ile Uncertain significance ★★★ ⚠ same condition
ACTC1 p.Gly247Asp Pathogenic/Likely 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/actc1-c-129-plus-17del (accessed [today's date]).

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