Is ABCC9 p.Ile243fs (c.729del) pathogenic?

ABCC9 p.Ile243fs (c.729del) is classified Pathogenic in ABCC9 (ClinVar, Single submitter, 1 submitter; last evaluated 2024-10-01). Absent from gnomAD; Associated with dilated cardiomyopathy 1O.

What condition is associated with ABCC9 p.Ile243fs (c.729del)?

ABCC9 p.Ile243fs (c.729del) is associated with dilated cardiomyopathy 1O (ClinVar).

How common is ABCC9 p.Ile243fs (c.729del) in the general population?

ABCC9 p.Ile243fs (c.729del) is absent from gnomAD (gnomAD).

How is Familial isolated dilated cardiomyopathy inherited?

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

ABCC9 p.Ile243fs

c.729del · rs2541735680 · VCV2018500

Pathogenic Single submitter

Classification

Pathogenic

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

Consequence

frameshift

predicted LoF

gnomAD v4.1

Not reported

no gnomAD frequency available for this variant

Conditions

dilated cardiomyopathy 1O

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Consequence	frameshift	predicted loss-of-function
NMD	predicted	premature termination codon in exon 7 of 40
Splicing
SpliceAI	—	not assessed · substitutions only
Constraint at this position
Conservation	phyloP 7.7	GERP 1.9, phastCons 1

Predicted loss-of-function is descriptive, not an applied PVS1 code.

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: ABCC9
Protein: p.Ile243fs
Coding: c.729del
MANE Select: NM_020297
dbSNP: rs2541735680
Type: Deletion
Location: chr12:21915755 (GRCh38)
Gene constraint: LOEUF 0.557 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 81.72

Full ABCC9 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

dilated cardiomyopathy 1O — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Familial isolated dilated cardiomyopathy (Orphanet):

Inheritance: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance
Onset: All ages
Prevalence: 1-9 / 100 000 (Europe)

Similar variants

ABCC9 p.Ile243Thr Uncertain significance ★★ ⚠ same residue
ABCC9 p.Ile243Ser Uncertain significance ★ ⚠ same residue
ABCC9 p.Gly1339fs Uncertain significance ★★ same condition
ABCC9 c.1012-14del Likely benign ★★ same condition
ABCC9 c.1165-20del Likely benign ★★ same condition
ABCC9 c.1165-6del Benign ★★ same condition
ABCC9 c.1456-10del Likely benign ★★ same condition
ABCC9 c.2238-17del Benign ★★ 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/abcc9-p-ile243fs (accessed [today's date]).

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