Is AMH p.Ser283= (c.849G>A) pathogenic?

AMH p.Ser283= (c.849G>A) is classified Likely benign in AMH (ClinVar, No assertion criteria, 1 submitter; last evaluated 2019-04-16). Ultra-rare (popmax 0.0167%, sas); Associated with AMH-related disorder.

What condition is associated with AMH p.Ser283= (c.849G>A)?

AMH p.Ser283= (c.849G>A) is associated with AMH-related disorder (ClinVar).

How common is AMH p.Ser283= (c.849G>A) in the general population?

AMH p.Ser283= (c.849G>A) is ultra-rare (popmax 0.0167%, sas) (gnomAD).

AMH p.Ser283=

c.849G>A · rs747809683 · VCV3035111

Likely benign No assertion criteria

Classification

Likely benign

ClinVar

Review

No assertion criteria ☆☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

ultra-rare (popmax 0.0167%, sas)

Conditions

AMH-related disorder

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 -0.083	GERP -1.7
Overall
CADD	4.061	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.0167% South Asian · 14/83,958 alleles

Filtering AF 0.01% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00804%

Overall 0.00104% 16/1,540,416 alleles · ultra-rare

Ancestry group	Frequency	1 in
South Asiangrpmax	0.0167%	5,997
African / African-American	0.00276%	36,178

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.Ser283=
Coding: c.849G>A
MANE Select: NM_000479
dbSNP: rs747809683
Type: single nucleotide variant
Location: chr19:2251123 (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 283: the 'disordered' region

Full AMH gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

AMH-related disorder

Similar variants

AMH p.Gln217Ter Pathogenic/Likely pathogenic ★★ same condition
AMH p.Pro304Thr Uncertain significance ★★ ⚠ same condition
AMH p.Val12Gly Uncertain significance ★★ ⚠ same condition
AMH p.Arg302Gln Conflicting classifications of pathogenicity ★ ⚠ same condition
AMH p.His506Gln Conflicting classifications of pathogenicity ★ ⚠ same condition
AMH p.Pro352Leu Uncertain significance ★ ⚠ same condition
AMH c.665-7A>G Likely benign same condition
AMH c.-2C>T Likely benign 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/amh-p-ser283 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown