ANKRD26 p.Ser775=
c.2325A>G · rs374641885 · VCV2439103
Conflicting classifications of pathogenicity
Conflicting submitters
Classification
Conflicting classifications of pathogenicity
ClinVar
Review
Conflicting submitters ★☆☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0626%, afr)
Conditions
1
Inborn genetic diseases
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 -5.3 | GERP 0.62 |
| Overall | ||
| CADD | 7.458 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0626%
African / African-American · 47/75,048 alleles
Filtering AF
0.0483%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0433%
Overall
0.00316%
51/1,613,800 alleles · ultra-rare
exomes 24/1,461,462 · genomes 27/152,338 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.0626% | 1,597 |
| Admixed American | 0.005% | 20,005 |
| European (non-Finnish) | 8.48e-05% | 1,179,896 |
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.Ser775=
- Coding
- c.2325A>G
- MANE Select
- NM_014915
- dbSNP
- rs374641885
- Type
- single nucleotide variant
- Location
- chr10:27040015 (GRCh38)
- Gene constraint
- LOEUF 0.728 · pLI <0.01 · ClinGen HI 0/3 (gnomAD)
- Structure
- AlphaFold pLDDT 62.91
Similar variants
- ANKRD26 p.Ser775Leu Uncertain significance ★★ ⚠ 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
- ANKRD26 p.Ala1416Val Uncertain significance ★★ ⚠ same condition
- ANKRD26 p.Ala1503Ser 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-ser775 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown