Is AMPD1 p.Gly33= (c.99A>G) pathogenic?

AMPD1 p.Gly33= (c.99A>G) is classified Benign/Likely benign in AMPD1 (ClinVar, Multiple submitters, 4 submitters; last evaluated 2026-05-01). Rare (popmax 0.544%, nfe); Associated with myopathy due to myoadenylate deaminase deficiency.

What condition is associated with AMPD1 p.Gly33= (c.99A>G)?

AMPD1 p.Gly33= (c.99A>G) is associated with myopathy due to myoadenylate deaminase deficiency (ClinVar).

How common is AMPD1 p.Gly33= (c.99A>G) in the general population?

AMPD1 p.Gly33= (c.99A>G) is rare (popmax 0.544%, nfe) (gnomAD).

AMPD1 p.Gly33=

c.99A>G · rs61752480 · VCV92333

Benign/Likely benign Multiple submitters

Classification

Benign/Likely benign

ClinVar

Review

Multiple submitters ★★☆☆

ClinVar · 4 submitters

gnomAD v4.1

Rare

rare (popmax 0.544%, nfe)

Conditions

myopathy due to myoadenylate deaminase deficiency

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 -0.3	GERP -5, phastCons 0.4
Overall
CADD	6.727	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.544% European (non-Finnish) · 6,417/1,180,036 alleles

Filtering AF 0.533% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.528%

Overall 0.452% 7,295/1,614,210 alleles · rare

Ancestry group	Frequency	1 in
European (non-Finnish)grpmax	0.544%	184
Remaining individualsnot grpmax-eligible	0.482%	208
Finnishnot grpmax-eligible	0.378%	265
Admixed American	0.25%	400
South Asian	0.116%	859
African / African-American	0.0786%	1,272
Ashkenazi Jewishnot grpmax-eligible	0.0574%	1,742
Middle Eastern	0.0495%	2,021

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: AMPD1
Protein: p.Gly33=
Coding: c.99A>G
MANE Select: NM_000036
dbSNP: rs61752480
Type: single nucleotide variant
Location: chr1:114688677 (GRCh38)
Gene constraint: LOEUF 1.036 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 86.84

Full AMPD1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

myopathy due to myoadenylate deaminase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AMPD1 p.Gln653Ter Pathogenic/Likely pathogenic ★★ same condition
AMPD1 c.1388+5G>A Uncertain significance ★★ same condition
AMPD1 c.1974+1G>A Uncertain significance ★★ same condition
AMPD1 c.-42C>T Uncertain significance ★★ ⚠ same condition
AMPD1 p.Ala308Thr Uncertain significance ★★ ⚠ same condition
AMPD1 p.Ala489Thr Uncertain significance ★★ ⚠ same condition
AMPD1 p.Ala578Thr Uncertain significance ★★ ⚠ same condition
AMPD1 p.Ala616Thr Uncertain significance ★★ ⚠ 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/ampd1-p-gly33 (accessed [today's date]).

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