ANO3 p.Lys447Ter
c.1339A>T · rs762206732 · VCV1878330
Uncertain significance
Single submitter
Classification
Uncertain significance
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
Consequence
nonsense (stop-gain)
predicted LoF
gnomAD v4.1
Absent
absent from gnomAD v4.1
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation/SpliceAI carries the signal. | ||
| Consequence | nonsense (stop-gain) | predicted loss-of-function |
|---|---|---|
| NMD | predicted | premature termination codon in exon 13 of 27 |
| Splicing | ||
| SpliceAI | Δ0.30 | donor loss · deltas |
| Constraint at this position | ||
| Conservation | phyloP 7.9 | GERP 1.8, phastCons 1 |
| Overall | ||
| CADD | 49.0 | PHRED · no single calibrated threshold — expert panels disagree |
Predicted loss-of-function is descriptive, not an applied PVS1 code.
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- ANO3
- Protein
- p.Lys447Ter
- Coding
- c.1339A>T
- MANE Select
- NM_031418
- dbSNP
- rs762206732
- Type
- single nucleotide variant
- Location
- chr11:26553298 (GRCh38)
- Gene constraint
- LOEUF 0.911 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.30
Similar variants
- ANO3 p.Ala657Thr Likely pathogenic ★★ same type
- ANO3 p.Asn648Ser Pathogenic/Likely pathogenic ★★ same type
- ANO3 p.Glu510Lys Pathogenic/Likely pathogenic ★★ same type
- ANO3 p.Gly567Arg Likely pathogenic ★★ ⚠ same type
- ANO3 p.Ile607Phe Pathogenic/Likely pathogenic ★★ same type
- ANO3 c.1836+4A>C Uncertain significance ★★ same type
- ANO3 c.2141+1G>A Uncertain significance ★★ same type
- ANO3 c.2276-6T>C 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/ano3-p-lys447ter (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown