ANKRD26 p.Ala472=
c.1416T>C · VCV4724871
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0011%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | all four deltas below 0.2 · A>C here scores Δ0.24 · evaluated, not missing |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP 1.8 | phastCons 0.98 |
| Overall | ||
| CADD | 9.413 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0011%
South Asian · 1/91,064 alleles
Overall
0.000124%
2/1,612,874 alleles · very rare
exomes 2/1,460,560 · genomes 0/152,314 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0011% | 91,064 |
| European (non-Finnish) | 8.48e-05% | 1,179,165 |
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.Ala472=
- Coding
- c.1416T>C
- MANE Select
- NM_014915
- Type
- single nucleotide variant
- Location
- chr10:27061190 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.91
Similar variants
- ANKRD26 p.Ala472Pro Uncertain significance ★ ⚠ same residue
- ANKRD26 c.-118C>A Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-118C>T Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-126T>C Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-127A>T Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-128G>A Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-128G>T Pathogenic/Likely pathogenic ★★ same type
- ANKRD26 c.-134G>A Pathogenic/Likely pathogenic ★★ 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/ankrd26-p-ala472 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown