ADCY3 p.Phe799=
c.2397T>C · rs774738640 · VCV3018581
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
ultra-rare (popmax 0.0233%, amr)
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 -0.22 | GERP -5, phastCons 0.002 |
| Overall | ||
| CADD | 1.894 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.0233%
Admixed American · 14/60,014 alleles
Filtering AF
0.0141%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.0112%
Overall
0.000929%
15/1,614,110 alleles · ultra-rare
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 0.0233% | 4,287 |
| South Asian | 0.0011% | 91,094 |
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
- ADCY3
- Protein
- p.Phe799=
- Coding
- c.2397T>C
- MANE Select
- NM_004036
- dbSNP
- rs774738640
- Type
- single nucleotide variant
- Location
- chr2:24827937 (GRCh38)
- Gene constraint
- LOEUF 0.695 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.86
Similar variants
- ADCY3 p.Ala512Thr Uncertain significance ★★ ⚠ same type
- ADCY3 p.Ala553Val Uncertain significance ★★ ⚠ same type
- ADCY3 p.Ala97Val Uncertain significance ★★ ⚠ same type
- ADCY3 p.Arg1041His Uncertain significance ★★ ⚠ same type
- ADCY3 p.Arg259Cys Uncertain significance ★★ ⚠ same type
- ADCY3 p.Arg705Lys Uncertain significance ★★ ⚠ same type
- ADCY3 p.Asp474Asn Uncertain significance ★★ ⚠ same type
- ADCY3 p.Cys727Arg Uncertain significance ★★ ⚠ 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/adcy3-p-phe799 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown