ADCY5 p.Pro43=
c.129C>T · rs1238540034 · VCV2800212
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 7.22e-05%)
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 0.056 | GERP -2.3, phastCons 0.23 |
| Overall | ||
| CADD | 8.289 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
7.22e-05%
Overall
7.22e-05%
1/1,384,150 alleles · very rare
exomes 1/1,231,934 · genomes 0/152,216 · joint denominator
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
- ADCY5
- Protein
- p.Pro43=
- Coding
- c.129C>T
- MANE Select
- NM_183357
- dbSNP
- rs1238540034
- Type
- single nucleotide variant
- Location
- chr3:123448417 (GRCh38)
- Gene constraint
- LOEUF 0.326 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 73.91 · 2 PDB
- Residue 43
- the 'disordered' region
Similar variants
- ADCY5 p.Pro43_His44del Uncertain significance ★ same residue
- ADCY5 c.2088+1G>A Pathogenic ★★ same type
- ADCY5 p.Ala726Thr Pathogenic ★★ ⚠ same type
- ADCY5 p.Arg1013Cys Pathogenic/Likely pathogenic ★★ same type
- ADCY5 p.Arg418Gln Pathogenic ★★ same type
- ADCY5 p.Arg418Trp Pathogenic ★★ same type
- ADCY5 p.Arg760Ter Pathogenic ★★ same type
- ADCY5 p.Asp1015Glu Likely pathogenic ★★ same type
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/adcy5-p-pro43 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown