AMHR2 p.Glu84=
c.252G>A · VCV4804109
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
ultra-rare (popmax 0.0133%, amr)
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 3.9 | GERP -0.18, phastCons 1 |
| Overall | ||
| CADD | 8.347 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0133%
Admixed American · 8/59,948 alleles
Filtering AF
0.00662%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00483%
Overall
0.000558%
9/1,613,596 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0133% | 7,493 |
| Remaining individualsnot grpmax-eligible | 0.0016% | 62,468 |
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
- AMHR2
- Protein
- p.Glu84=
- Coding
- c.252G>A
- MANE Select
- NM_020547
- Type
- single nucleotide variant
- Location
- chr12:53424728 (GRCh38)
- Gene constraint
- LOEUF 0.784 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 78.34 · 1 PDB
Similar variants
- AMHR2 p.Ala168Thr Pathogenic/Likely pathogenic ★★ ⚠ same type
- AMHR2 p.Arg172Ter Pathogenic/Likely pathogenic ★★ same type
- AMHR2 p.Arg22Ter Pathogenic/Likely pathogenic ★★ same type
- AMHR2 p.Arg463Cys Pathogenic/Likely pathogenic ★★ same type
- AMHR2 p.Arg471His Pathogenic/Likely pathogenic ★★ ⚠ same type
- AMHR2 p.Ala118Thr Uncertain significance ★★ ⚠ same type
- AMHR2 p.Ala139Val Uncertain significance ★★ ⚠ same type
- AMHR2 p.Arg22Gln 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/amhr2-p-glu84 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown