ANO5 p.Ile528=
c.1584C>A · VCV4911054
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0132%, sas)
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 0.62 | GERP 0.92, phastCons 0.99 |
| Overall | ||
| CADD | 7.013 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0132%
South Asian · 12/91,082 alleles
Filtering AF
0.00751%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00593%
Overall
0.000743%
12/1,613,996 alleles · ultra-rare
exomes 12/1,461,738 · genomes 0/152,258 · 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
- ANO5
- Protein
- p.Ile528=
- Coding
- c.1584C>A
- MANE Select
- NM_213599
- Type
- single nucleotide variant
- Location
- chr11:22259695 (GRCh38)
- Gene constraint
- LOEUF 1.034 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 82.22
- Residue 528
- a UniProt-annotated variant site (in lgmdr12)
Similar variants
- ANO5 c.1898+1G>A Pathogenic ★★★ same type
- ANO5 c.41-1G>A Pathogenic ★★★ same type
- ANO5 p.Ala432Gly Pathogenic ★★★ ⚠ same type
- ANO5 p.Arg484Cys Likely pathogenic ★★★ same type
- ANO5 p.Arg50Ter Pathogenic ★★★ same type
- ANO5 p.Arg58Trp Pathogenic ★★★ ⚠ same type
- ANO5 p.Arg758Cys Pathogenic ★★★ same type
- ANO5 p.Asp81Gly Pathogenic ★★★ 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/ano5-p-ile528 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown