ABCC1 p.Ile1484=
c.4452C>T · rs35148086 · VCV768755
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 6.57%, afr) — too common for a highly-penetrant pathogenic allele
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 -9.6 | GERP -3.7 |
| Overall | ||
| CADD | 1.363 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
6.57%
African / African-American · 4,797/73,052 alleles
Filtering AF
6.41%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 6.35%
Overall
0.355%
5,620/1,581,964 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 6.57% | 15 |
| Remaining individualsnot grpmax-eligible | 0.502% | 199 |
| Admixed American | 0.481% | 208 |
| Middle Eastern | 0.27% | 370 |
| South Asian | 0.0194% | 5,142 |
| East Asian | 0.0183% | 5,468 |
| European (non-Finnish) | 0.0166% | 6,009 |
| Finnishnot grpmax-eligible | 0.00476% | 21,029 |
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
- ABCC1
- Protein
- p.Ile1484=
- Coding
- c.4452C>T
- MANE Select
- NM_004996
- dbSNP
- rs35148086
- Type
- single nucleotide variant
- Location
- chr16:16138523 (GRCh38)
- Gene constraint
- LOEUF 0.564 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 83.01 · 5 PDB
- Residue 1484
- the abc transporter 2 domain
Similar variants
- ABCC1 p.Thr1464Met Uncertain significance ★★ ⚠ same type
- ABCC1 c.1381-5C>G Benign ★★ same type
- ABCC1 p.Ala1260= Benign ★★ same type
- ABCC1 p.Ala1406= Benign ★★ same type
- ABCC1 p.Arg433Ser Benign ★★ same type
- ABCC1 p.Asp637= Likely benign ★★ same type
- ABCC1 p.Gly762= Benign/Likely benign ★★ same type
- ABCC1 p.Gly885= Benign ★★ same type
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/abcc1-p-ile1484 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown