ANKRD26 p.Pro252=
c.756G>A · rs201128867 · VCV880123
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 6 submitters
gnomAD v4.1
Rare
rare (popmax 0.177%, sas)
Conditions
1
thrombocytopenia 2
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 -0.32 | GERP -3.4 |
| Overall | ||
| CADD | 11.05 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.177%
South Asian · 161/91,060 alleles
Filtering AF
0.154%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.146%
Overall
0.0144%
232/1,613,632 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.177% | 566 |
| East Asian | 0.132% | 760 |
| Middle Eastern | 0.0165% | 6,060 |
| Admixed American | 0.00667% | 15,002 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,624 |
| European (non-Finnish) | 0.000254% | 393,224 |
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
- ANKRD26
- Protein
- p.Pro252=
- Coding
- c.756G>A
- MANE Select
- NM_014915
- dbSNP
- rs201128867
- Type
- single nucleotide variant
- Location
- chr10:27079146 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.91
- Residue 252
- the 'disordered' region
Similar variants
- ANKRD26 p.Pro252Leu Uncertain significance ★★ ⚠ same residue
- ANKRD26 p.Pro252Ala Uncertain significance ★ ⚠ same residue
- ANKRD26 c.-118C>T Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-126T>C Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-127A>T Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-128G>A Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-128G>T Pathogenic/Likely pathogenic ★★ same condition
- ANKRD26 c.-134G>A 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/ankrd26-p-pro252 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown