ANKRD11 p.Pro1892=
c.5676T>C · VCV3675863
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.000171%, nfe)
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 0.57 | GERP -2.5, phastCons 0.033 |
| Overall | ||
| CADD | 0.567 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.000171%
European (non-Finnish) · 2/1,172,740 alleles
Filtering AF
2.8e-05%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 1.1e-05%
Overall
0.000125%
2/1,604,242 alleles · very rare
exomes 2/1,451,970 · genomes 0/152,272 · joint denominator
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.Pro1892=
- Coding
- c.5676T>C
- MANE Select
- NM_013275
- Type
- single nucleotide variant
- Location
- chr16:89280866 (GRCh38)
- Gene constraint
- LOEUF 0.132 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 39.44
Similar variants
- 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
- ANKRD11 c.7570-1G>A Pathogenic ★★ same condition
- ANKRD11 c.892+1G>A Likely pathogenic ★★ same condition
- ANKRD11 p.Arg1007Ter Pathogenic/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-pro1892 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown