ANO8 p.Ser990=
c.2970G>A · VCV4941438
Benign
Single submitter
Classification
Benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Common
common (popmax 38.4%, sas) — too common for a highly-penetrant pathogenic allele
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 -9.9 | GERP -2.2 |
| Overall | ||
| CADD | 0.072 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
38.4%
South Asian · 35,011/91,070 alleles
Filtering AF
38.1%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 38%
Overall
31.6%
510,542/1,613,386 alleles · common
exomes 468,850/1,461,246 · genomes 41,692/152,140 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| South Asiangrpmax | 38.4% | 3 |
| Amishnot grpmax-eligible | 33.8% | 3 |
| European (non-Finnish) | 33% | 3 |
| Remaining individualsnot grpmax-eligible | 31.9% | 3 |
| Finnishnot grpmax-eligible | 31.1% | 3 |
| Middle Eastern | 30.8% | 3 |
| Ashkenazi Jewishnot grpmax-eligible | 30% | 3 |
| Admixed American | 29.6% | 3 |
| African / African-American | 17.7% | 6 |
| East Asian | 10% | 10 |
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
- ANO8
- Protein
- p.Ser990=
- Coding
- c.2970G>A
- MANE Select
- NM_020959
- Type
- single nucleotide variant
- Location
- chr19:17325078 (GRCh38)
- Gene constraint
- LOEUF 0.795 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 63.82
Similar variants
- ANO8 p.Ala1004Asp Uncertain significance ★ ⚠ same type
- ANO8 p.Ala1048Pro Uncertain significance ★ ⚠ same type
- ANO8 p.Ala1119Thr Uncertain significance ★ ⚠ same type
- ANO8 p.Ala1119Val Uncertain significance ★ ⚠ same type
- ANO8 p.Ala1167Thr Uncertain significance ★ ⚠ same type
- ANO8 p.Ala1170Asp Uncertain significance ★ ⚠ same type
- ANO8 p.Ala1170Thr Uncertain significance ★ ⚠ same type
- ANO8 p.Ala1184Thr 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/ano8-p-ser990 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown