AMN p.Ala47=
c.141C>G · rs755118412 · VCV2127822
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Imerslund-Grasbeck 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 -6.1 | GERP -2.6 |
| Overall | ||
| CADD | 3.422 | PHRED · no single calibrated threshold — expert panels disagree |
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
- AMN
- Protein
- p.Ala47=
- Coding
- c.141C>G
- MANE Select
- NM_030943
- dbSNP
- rs755118412
- Type
- single nucleotide variant
- Location
- chr14:102923808 (GRCh38)
- Gene constraint
- LOEUF 1.446 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 80.78 · 1 PDB
- Residue 47
- a β-strand; a disulfide bond
Disease context
Imerslund-Grasbeck syndrome — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Imerslund-Gräsbeck syndrome (Orphanet):
- Inheritance
- Autosomal recessive
- Onset
- Childhood
- Prevalence
- 1-9 / 1 000 000 (Finland)
Similar variants
- AMN p.Ala47Val Uncertain significance ★★ ⚠ same residue
- AMN c.208-1G>C Pathogenic/Likely pathogenic ★★ same condition
- AMN c.296-1G>A Likely pathogenic ★★ same condition
- AMN c.44-1G>A Likely pathogenic ★★ same condition
- AMN c.760+1G>A Likely pathogenic ★★ same condition
- AMN c.844-1G>C Likely pathogenic ★★ same condition
- AMN p.Thr41Ile Likely pathogenic ★★ ⚠ same condition
- AMN p.Trp391Ter 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/amn-p-ala47 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown