Is AMPD3 c.*327G>C pathogenic?

AMPD3 c.327G>C is classified Uncertain significance in AMPD3 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-13). Rare (popmax 0.659%, afr); Associated with Erythrocyte AMP deaminase deficiency.

What condition is associated with AMPD3 c.*327G>C?

AMPD3 c.*327G>C is associated with Erythrocyte AMP deaminase deficiency (ClinVar).

How common is AMPD3 c.*327G>C in the general population?

AMPD3 c.*327G>C is rare (popmax 0.659%, afr) (gnomAD).

AMPD3 c.*327G>C

rs146002789 · VCV877510

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

rare (popmax 0.659%, afr)

Conditions

Erythrocyte AMP 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 -0.58	GERP -4.6
Non-coding constraint	Z 4.13	1 kb window · o/e 0.70 · regional · uncalibrated
Overall
CADD	3.875	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.659% African / African-American · 315/47,764 alleles

Filtering AF 0.6% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.576%

Overall 0.0947% 339/357,804 alleles · rare

Ancestry group	Frequency	1 in
African / African-Americangrpmax	0.659%	152
Admixed American	0.0676%	1,479
Remaining individualsnot grpmax-eligible	0.0308%	3,248
South Asian	0.00256%	39,134
European (non-Finnish)	0.0016%	62,683

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: AMPD3
Coding: c.*327G>C
MANE Select: NM_001025389
dbSNP: rs146002789
Type: single nucleotide variant
Location: chr11:10506211 (GRCh38)
Gene constraint: LOEUF 0.817 · pLI <0.01 (gnomAD)
Structure: AlphaFold pLDDT 85.74

Full AMPD3 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

Erythrocyte AMP deaminase deficiency — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

Similar variants

AMPD3 c.1135-5C>A Uncertain significance ★★ same condition
AMPD3 c.1135-6C>G Uncertain significance ★★ same condition
AMPD3 c.1267-3C>T Uncertain significance ★★ same condition
AMPD3 c.*287T>C Uncertain significance ★★ same condition
AMPD3 c.*75C>T Uncertain significance ★★ same condition
AMPD3 p.Ala141= Uncertain significance ★★ same condition
AMPD3 p.Arg426Trp Uncertain significance ★★ ⚠ same condition
AMPD3 p.Arg576= 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/ampd3-c-star-327g-c (accessed [today's date]).

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