ANKRD11 p.Pro1926=
c.5778G>A · rs757242595 · VCV2872555
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.201%, eas)
Conditions
1
KBG syndrome
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 -2.8 |
| Overall | ||
| CADD | 0.041 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.201%
East Asian · 90/44,834 alleles
Filtering AF
0.167%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.155%
Overall
0.011%
178/1,612,338 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 0.201% | 498 |
| African / African-American | 0.016% | 6,240 |
| European (non-Finnish) | 0.00619% | 16,153 |
| Remaining individualsnot grpmax-eligible | 0.00321% | 31,199 |
| South Asian | 0.0011% | 91,050 |
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
- ANKRD11
- Protein
- p.Pro1926=
- Coding
- c.5778G>A
- MANE Select
- NM_013275
- dbSNP
- rs757242595
- Type
- single nucleotide variant
- Location
- chr16:89280764 (GRCh38)
- Gene constraint
- LOEUF 0.132 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 39.44
Similar variants
- ANKRD11 p.Pro1926Leu Uncertain significance ★ ⚠ same residue
- ANKRD11 p.Pro1926Ser Uncertain significance ★ ⚠ same residue
- ANKRD11 p.Pro1926fs Pathogenic ★ same residue
- ANKRD11 p.Pro1926_Tyr1930del Uncertain significance ★ same residue
- ANKRD11 c.744+1G>T Pathogenic ★★ same condition
- ANKRD11 c.745-2A>G Likely pathogenic ★★ same condition
- ANKRD11 c.7470+1G>C Pathogenic ★★ same condition
- ANKRD11 c.7569+1G>A 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/ankrd11-p-pro1926 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown