ANKRD26 p.Ala142=
c.426G>A · rs746957045 · VCV878355
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00891%, eas)
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 -20 | GERP -3.7 |
| Overall | ||
| CADD | 2.788 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00891%
East Asian · 4/44,894 alleles
Filtering AF
0.00298%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00195%
Overall
0.00124%
20/1,613,974 alleles · very rare
exomes 19/1,461,836 · genomes 1/152,138 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.00891% | 11,223 |
| South Asian | 0.00659% | 15,182 |
| Remaining individualsnot grpmax-eligible | 0.0032% | 31,239 |
| African / African-American | 0.00134% | 74,906 |
| European (non-Finnish) | 0.000593% | 168,573 |
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.Ala142=
- Coding
- c.426G>A
- MANE Select
- NM_014915
- dbSNP
- rs746957045
- Type
- single nucleotide variant
- Location
- chr10:27093454 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.91
Similar variants
- ANKRD26 p.Ala142Val Conflicting classifications of pathogenicity ★ ⚠ same residue
- ANKRD26 p.Ala142Glu Uncertain significance ★ ⚠ same residue
- ANKRD26 p.Ala142Pro 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
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-ala142 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown