ABCC9 p.Asp308=
c.924T>C · rs139127928 · VCV45424
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 11 submitters
gnomAD v4.1
Rare
rare (popmax 0.396%, afr)
Conditions
2
cardiomyopathy
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 0.37 | GERP -3, phastCons 0.019 |
| Overall | ||
| CADD | 6.137 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.396%
African / African-American · 297/75,004 alleles
Filtering AF
0.359%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.344%
Overall
0.0215%
347/1,613,722 alleles · rare
exomes 149/1,461,508 · genomes 198/152,214 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.396% | 253 |
| Admixed American | 0.0417% | 2,399 |
| Remaining individualsnot grpmax-eligible | 0.0336% | 2,975 |
| Middle Eastern | 0.0165% | 6,056 |
| South Asian | 0.00329% | 30,358 |
Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.
Variant & gene context
- Gene
- ABCC9
- Protein
- p.Asp308=
- Coding
- c.924T>C
- MANE Select
- NM_020297
- dbSNP
- rs139127928
- Type
- single nucleotide variant
- Location
- chr12:21912959 (GRCh38)
- Gene constraint
- LOEUF 0.557 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.72
- Residue 308
- the abc transmembrane type-1 1 domain
Similar variants
- ABCC9 c.2506-1G>A Pathogenic/Likely pathogenic ★★ same condition
- ABCC9 p.Arg1116Cys Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ABCC9 p.Arg1116His Pathogenic ★★ ⚠ same condition
- ABCC9 p.Arg1154Gln Pathogenic ★★ ⚠ same condition
- ABCC9 p.Arg1154Trp Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ABCC9 p.Gln852Ter Pathogenic/Likely pathogenic ★★ same condition
- ABCC9 p.Thr1202Met Pathogenic/Likely pathogenic ★★ ⚠ same condition
- ABCC9 p.Val1266Met 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/abcc9-p-asp308 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown