ABCC10 p.Pro936=
c.2808G>A · VCV4636138
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0494%, mid)
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 -3.3 | GERP -3.1 |
| Overall | ||
| CADD | 2.632 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0494%
Middle Eastern · 3/6,074 alleles
Filtering AF
0.0134%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00717%
Overall
0.00155%
25/1,613,638 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.0494% | 2,025 |
| East Asian | 0.0111% | 8,978 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,229 |
| Admixed American | 0.00167% | 59,924 |
| European (non-Finnish) | 0.0011% | 90,756 |
| South Asian | 0.0011% | 91,050 |
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
- ABCC10
- Protein
- p.Pro936=
- Coding
- c.2808G>A
- MANE Select
- NM_001198934
- Type
- single nucleotide variant
- Location
- chr6:43444906 (GRCh38)
- Gene constraint
- LOEUF 0.894 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.32
- Residue 936
- the abc transmembrane type-1 2 domain
Similar variants
- ABCC10 p.Met895Thr Uncertain significance ★★ ⚠ same type
- ABCC10 p.Ala1050Ser Uncertain significance ★ ⚠ same type
- ABCC10 p.Ala1119Thr Uncertain significance ★ ⚠ same type
- ABCC10 p.Ala1165Thr Uncertain significance ★ ⚠ same type
- ABCC10 p.Ala1179Thr Uncertain significance ★ ⚠ same type
- ABCC10 p.Ala1324Pro Uncertain significance ★ ⚠ same type
- ABCC10 p.Ala1324Ser Uncertain significance ★ ⚠ same type
- ABCC10 p.Ala144Gly 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/abcc10-p-pro936 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown