ABCC5 p.Gln1071=
c.3213G>A · rs150912353 · VCV713066
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
low-frequency (popmax 1.19%, eas)
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 1.4 | GERP -1.2, phastCons 1 |
| Overall | ||
| CADD | 7.277 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
1.19%
East Asian · 536/44,888 alleles
Filtering AF
1.11%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.08%
Overall
0.0362%
585/1,614,126 alleles · low-frequency
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 1.19% | 84 |
| Remaining individualsnot grpmax-eligible | 0.0608% | 1,645 |
| South Asian | 0.00659% | 15,179 |
| Admixed American | 0.00167% | 60,028 |
| European (non-Finnish) | 0.000339% | 294,996 |
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
- ABCC5
- Protein
- p.Gln1071=
- Coding
- c.3213G>A
- MANE Select
- NM_005688
- dbSNP
- rs150912353
- Type
- single nucleotide variant
- Location
- chr3:183949767 (GRCh38)
- Gene constraint
- LOEUF 0.455 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 78.13 · 6 PDB
- Residue 1071
- the abc transmembrane type-1 2 domain
Similar variants
- ABCC5 c.825+10G>A Benign ★★ same type
- ABCC5 p.Cys594= Benign ★★ same type
- ABCC5 p.Ala1008Ser Uncertain significance ★ ⚠ same type
- ABCC5 p.Ala1150Thr Uncertain significance ★ ⚠ same type
- ABCC5 p.Ala1182Val Uncertain significance ★ ⚠ same type
- ABCC5 p.Ala1302Gly Uncertain significance ★ ⚠ same type
- ABCC5 p.Ala1343Thr Uncertain significance ★ ⚠ same type
- ABCC5 p.Ala1434Thr Uncertain significance ★ ⚠ 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/abcc5-p-gln1071 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown