ADCY3 p.Ser261=
c.783G>A · rs751805837 · VCV3043423
Likely benign
No assertion criteria
Classification
Likely benign
ClinVar
Review
No assertion criteria ☆☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Rare
very rare (popmax 0.00801%, afr)
Conditions
1
ADCY3-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 -7.6 | GERP -4.6 |
| Overall | ||
| CADD | 7.927 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.00801%
African / African-American · 6/74,924 alleles
Filtering AF
0.00347%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.00229%
Overall
0.00142%
23/1,614,078 alleles · very rare
exomes 19/1,461,868 · genomes 4/152,210 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.00801% | 12,487 |
| East Asian | 0.00668% | 14,963 |
| South Asian | 0.0022% | 45,545 |
| European (non-Finnish) | 0.00102% | 98,337 |
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.Ser261=
- Coding
- c.783G>A
- MANE Select
- NM_004036
- dbSNP
- rs751805837
- Type
- single nucleotide variant
- Location
- chr2:24872612 (GRCh38)
- Gene constraint
- LOEUF 0.695 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.86
Disease context
ADCY3-related disorder
Similar variants
- ADCY3 p.Val195Met Uncertain significance ★★ ⚠ same condition
- ADCY3 c.2496-13C>T Uncertain significance ★ same condition
- ADCY3 p.Arg252Cys Uncertain significance ★ ⚠ same condition
- ADCY3 p.Arg564His Uncertain significance ★ ⚠ same condition
- ADCY3 p.Arg623Cys Uncertain significance ★ ⚠ same condition
- ADCY3 p.Glu346Lys Uncertain significance ★ ⚠ same condition
- ADCY3 p.Met461Ile Uncertain significance ★ ⚠ same condition
- ADCY3 p.Thr738Met 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/adcy3-p-ser261 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown