AMH p.Gly101=
c.303G>A · rs61736575 · VCV1285842
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 3 submitters
gnomAD v4.1
Common
common (popmax 11.1%, eas) — 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 -0.4 | GERP -1.6 |
| Overall | ||
| CADD | 0.237 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
11.1%
East Asian · 4,720/42,408 alleles
Filtering AF
10.9%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 10.8%
Overall
4.37%
66,765/1,528,444 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 11.1% | 9 |
| South Asian | 8.29% | 12 |
| Finnishnot grpmax-eligible | 7.08% | 14 |
| Amishnot grpmax-eligible | 5.26% | 19 |
| Admixed American | 4.95% | 20 |
| Remaining individualsnot grpmax-eligible | 4.47% | 22 |
| European (non-Finnish) | 3.89% | 26 |
| Middle Eastern | 2.13% | 47 |
| African / African-American | 2.11% | 47 |
| Ashkenazi Jewishnot grpmax-eligible | 1.98% | 50 |
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
- AMH
- Protein
- p.Gly101=
- Coding
- c.303G>A
- MANE Select
- NM_000479
- dbSNP
- rs61736575
- Type
- single nucleotide variant
- Location
- chr19:2249635 (GRCh38)
- Gene constraint
- LOEUF 1.954 · pLI <0.01 · ClinGen HI gene assoc. with recessive phenotype (gnomAD)
- Structure
- AlphaFold pLDDT 69.40 · 3 PDB
- Residue 101
- a UniProt-annotated variant site (in pmds1)
Similar variants
- AMH p.Gly101Arg Likely pathogenic ★★ same residue
- AMH p.Arg40Ter Pathogenic/Likely pathogenic ★★ same type
- AMH p.Gln217Ter Pathogenic/Likely pathogenic ★★ same type
- AMH p.Glu389Ter Pathogenic/Likely pathogenic ★★ same type
- AMH p.Pro151Ser Pathogenic ★★ ⚠ same type
- AMH p.Trp371Ter Pathogenic ★★ same type
- AMH p.Tyr167Cys Pathogenic ★★ same type
- AMH p.Ala78Thr 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/amh-p-gly101 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown