ANKRD11 p.Pro2276=
c.6828G>A · rs764436784 · VCV2200477
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0722%, sas)
Conditions
1
KBG syndrome
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 -3.4 | GERP -2.5 |
| Overall | ||
| CADD | 1.43 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0722%
South Asian · 60/83,128 alleles
Filtering AF
0.0575%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0523%
Overall
0.00786%
120/1,526,952 alleles · ultra-rare
exomes 110/1,374,822 · genomes 10/152,130 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.0722% | 1,385 |
| East Asian | 0.0265% | 3,780 |
| Remaining individualsnot grpmax-eligible | 0.0101% | 9,870 |
| European (non-Finnish) | 0.00359% | 27,848 |
| African / African-American | 0.00274% | 36,533 |
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.Pro2276=
- Coding
- c.6828G>A
- MANE Select
- NM_013275
- dbSNP
- rs764436784
- Type
- single nucleotide variant
- Location
- chr16:89279714 (GRCh38)
- Gene constraint
- LOEUF 0.132 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 39.44
- Residue 2276
- the 'disordered' region
Similar variants
- ANKRD11 p.Pro2276Leu Benign/Likely benign ★★ same residue
- ANKRD11 p.Pro2276Ser Benign/Likely benign ★★ same residue
- ANKRD11 p.Pro2276Ala Conflicting classifications of pathogenicity ★ ⚠ 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
- ANKRD11 c.7569+1G>C 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/ankrd11-p-pro2276 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown