ABCC9 p.Ser93fs
c.277del · VCV4733282
Pathogenic
Single submitter
Classification
Pathogenic
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
frameshift
predicted LoF
gnomAD v4.1
Rare
Conditions
1
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 4 of 40 |
| Splicing | ||
| SpliceAI | — | not assessed · substitutions only |
| Constraint at this position | ||
| Conservation | phyloP 8.6 | GERP 1.7, phastCons 1 |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Variant & gene context
- Gene
- ABCC9
- Protein
- p.Ser93fs
- Coding
- c.277del
- MANE Select
- NM_020297
- Type
- Deletion
- Location
- chr12:21933789 (GRCh38)
- Gene constraint
- LOEUF 0.557 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.72
Disease context
dilated cardiomyopathy 1O — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor 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.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
- ABCC9 c.3567-19_3567-13del Likely benign ★★ same condition
- ABCC9 c.4103-15del Likely 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-ser93fs (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown