AMPD3 p.Thr272=
c.816C>T · rs1313616295 · VCV3050742
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.0072%, nfe)
Conditions
1
AMPD3-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 -0.3 | GERP -0.27, phastCons 0.007 |
| Overall | ||
| CADD | 5.255 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0072%
European (non-Finnish) · 85/1,180,012 alleles
Filtering AF
0.00596%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00549%
Overall
0.00533%
86/1,614,024 alleles · very rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| European (non-Finnish)grpmax | 0.0072% | 13,882 |
| African / African-American | 0.00133% | 74,918 |
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
- Protein
- p.Thr272=
- Coding
- c.816C>T
- MANE Select
- NM_001025389
- dbSNP
- rs1313616295
- Type
- single nucleotide variant
- Location
- chr11:10487241 (GRCh38)
- Gene constraint
- LOEUF 0.817 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 85.74
Disease context
AMPD3-related disorder
Similar variants
- AMPD3 c.1135-6C>A Likely benign same condition
- AMPD3 c.1431-3C>T Likely benign same condition
- AMPD3 c.1431-7C>A Likely benign same condition
- AMPD3 c.-6+944G>T Likely benign same condition
- AMPD3 p.Ala21= Likely benign same condition
- AMPD3 p.Asn292= Likely benign same condition
- AMPD3 p.Asp478= Likely benign same condition
- AMPD3 p.Gln434= 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/ampd3-p-thr272 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown