ANKRD26 p.Asp313=
c.939T>C · rs761817546 · VCV2883725
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0516%, sas)
Conditions
1
Inborn genetic diseases
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| Splicing | ||
| SpliceAI | <0.2 | no splice effect predicted · four deltas, not one · how we know |
|---|---|---|
| Constraint at this position | ||
| Conservation | phyloP -0.17 | |
| Overall | ||
| CADD | 0.967 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0516%
South Asian · 47/91,094 alleles
Filtering AF
0.0398%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0357%
Overall
0.00322%
52/1,613,900 alleles · ultra-rare
exomes 50/1,461,790 · genomes 2/152,110 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0516% | 1,938 |
| Remaining individualsnot grpmax-eligible | 0.0064% | 15,620 |
| European (non-Finnish) | 8.47e-05% | 1,179,993 |
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.Asp313=
- Coding
- c.939T>C
- MANE Select
- NM_014915
- dbSNP
- rs761817546
- Type
- single nucleotide variant
- Location
- chr10:27077476 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.91
Similar variants
- ANKRD26 p.Asp313His Uncertain significance ★★ ⚠ same residue
- ANKRD26 p.Asp313Tyr Conflicting classifications of pathogenicity ★ ⚠ same residue
- ANKRD26 p.Asp313Asn Benign/Likely benign ★★ same residue
- ANKRD26 p.Ala1014Ser Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala1015Val Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala120Thr Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala1215Thr Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala1284Ser Uncertain significance ★★ ⚠ 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-asp313 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown