ANLN p.Ile809=
c.2427C>A · rs535543701 · VCV1164578
Benign/Likely benign
Multiple submitters
Classification
Benign/Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Rare
rare (popmax 0.44%, sas)
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.094 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -0.042 | GERP -1.8, phastCons 0.7 |
| Overall | ||
| CADD | 6.511 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.44%
South Asian · 400/90,920 alleles
Filtering AF
0.404%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.39%
Overall
0.0259%
418/1,613,334 alleles · rare
exomes 397/1,461,106 · genomes 21/152,228 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 0.44% | 227 |
| Middle Eastern | 0.033% | 3,030 |
| Remaining individualsnot grpmax-eligible | 0.024% | 4,165 |
| European (non-Finnish) | 8.48e-05% | 1,179,715 |
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
- ANLN
- Protein
- p.Ile809=
- Coding
- c.2427C>A
- MANE Select
- NM_018685
- dbSNP
- rs535543701
- Type
- single nucleotide variant
- Location
- chr7:36422760 (GRCh38)
- Gene constraint
- LOEUF 0.537 · pLI 0.08 (gnomAD)
- Structure
- AlphaFold pLDDT 60.09 · 3 PDB
- Residue 809
- the 'localization to the cleavage furrow' region; a β-strand
Similar variants
- ANLN p.Arg431Cys Pathogenic/Likely pathogenic ★★ same type
- ANLN c.2653-13G>A Uncertain significance ★★ same type
- ANLN p.Ala47Gly Uncertain significance ★★ ⚠ same type
- ANLN p.Ala828Thr Uncertain significance ★★ ⚠ same type
- ANLN p.Ala940Thr Uncertain significance ★★ ⚠ same type
- ANLN p.Arg1040His Uncertain significance ★★ ⚠ same type
- ANLN p.Arg154Cys Uncertain significance ★★ ⚠ same type
- ANLN p.Arg376Cys Uncertain significance ★★ ⚠ same type
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/anln-p-ile809 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown