AMN c.207+157G>C
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 5.08%, afr) — too common for a highly-penetrant pathogenic allele
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type. | ||
| Splicing | ||
| Splice region | donor +157 | deep intronic (+157 nt into the intron) |
|---|---|---|
| SpliceAI | — | not assessed · no allele here is in the release |
| Overall | ||
| CADD | 2.354 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
5.08%
African / African-American · 2,109/41,520 alleles
Filtering AF
4.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 4.83%
Overall
1.53%
2,325/152,174 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 5.08% | 20 |
| Remaining individualsnot grpmax-eligible | 1.42% | 71 |
| Admixed American | 0.936% | 107 |
| Ashkenazi Jewishnot grpmax-eligible | 0.576% | 173 |
| Middle Eastern | 0.34% | 294 |
| South Asian | 0.0623% | 1,606 |
| European (non-Finnish) | 0.028% | 3,577 |
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
- AMN
- Coding
- c.207+157G>C
- MANE Select
- NM_030943
- dbSNP
- rs74082982
- Type
- single nucleotide variant
- Location
- chr14:102924136 (GRCh38)
- Gene constraint
- LOEUF 1.446 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 80.78 · 1 PDB
Similar variants
- AMN c.208-1G>C Pathogenic/Likely pathogenic ★★ same type
- AMN c.296-1G>A Likely pathogenic ★★ same type
- AMN c.44-1G>A Likely pathogenic ★★ same type
- AMN c.760+1G>A Likely pathogenic ★★ same type
- AMN c.844-1G>C Likely pathogenic ★★ same type
- AMN p.Thr41Ile Likely pathogenic ★★ ⚠ same type
- AMN p.Trp391Ter Pathogenic/Likely pathogenic ★★ same type
- AMN c.296-3C>T 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/amn-c-207-plus-157g-c (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown