AMPD2 p.Pro242=
c.726G>A · rs199980707 · VCV1531340
Likely benign
Multiple submitters
Classification
Likely benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 4 submitters
gnomAD v4.1
Rare
rare (popmax 0.437%, mid)
Conditions
2
pontocerebellar hypoplasia type 9
Computational evidence
| Protein change | ||
| Missense predictors do not apply to this variant type; conservation carries the signal. | ||
| REVEL | 0.025 | moderately benign-leaning |
|---|---|---|
| Splicing | ||
| SpliceAI | — | not assessed · no allele here is in the release |
| Constraint at this position | ||
| Conservation | phyloP -4.2 | GERP -3.5 |
| Overall | ||
| CADD | 7.473 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.437%
Middle Eastern · 24/5,488 alleles
Filtering AF
0.302%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.257%
Overall
0.00843%
136/1,613,064 alleles · rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Middle Easterngrpmax | 0.437% | 229 |
| Remaining individualsnot grpmax-eligible | 0.0385% | 2,600 |
| African / African-American | 0.0213% | 4,687 |
| European (non-Finnish) | 0.00559% | 17,877 |
| East Asian | 0.00446% | 22,439 |
| South Asian | 0.0033% | 30,332 |
| Admixed American | 0.00167% | 59,944 |
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
- AMPD2
- Protein
- p.Pro242=
- Coding
- c.726G>A
- MANE Select
- NM_001368809
- dbSNP
- rs199980707
- Type
- single nucleotide variant
- Location
- chr1:109627182 (GRCh38)
- Gene constraint
- LOEUF 0.705 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.28 · 5 PDB
Similar variants
- AMPD2 p.Pro242Leu Uncertain significance ★ ⚠ same residue
- AMPD2 c.1698+1G>A Pathogenic/Likely pathogenic ★★ same condition
- AMPD2 p.Arg353Ter Pathogenic/Likely pathogenic ★★ same condition
- AMPD2 p.Arg449Ter Pathogenic/Likely pathogenic ★★ same condition
- AMPD2 p.Arg620His Pathogenic/Likely pathogenic ★★ same condition
- AMPD2 p.Arg789His Likely pathogenic ★★ same condition
- AMPD2 p.Glu174Ter Pathogenic/Likely pathogenic ★★ same condition
- AMPD2 c.1080+3G>A 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/ampd2-p-pro242 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown