ADCY2 p.Cys887=
c.2661C>T · rs2290910 · VCV1302453
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Common
common (popmax 47%, amr) — too common for a highly-penetrant pathogenic allele
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 -7.7 | GERP -5 |
| Overall | ||
| CADD | 7.748 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
47%
Admixed American · 28,174/59,982 alleles
Filtering AF
46.5%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 46.3%
Overall
26.1%
420,535/1,613,566 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| Admixed Americangrpmax | 47% | 2 |
| Amishnot grpmax-eligible | 36.2% | 3 |
| Finnishnot grpmax-eligible | 28.1% | 4 |
| East Asian | 27.5% | 4 |
| Remaining individualsnot grpmax-eligible | 26.3% | 4 |
| European (non-Finnish) | 26.1% | 4 |
| Ashkenazi Jewishnot grpmax-eligible | 26.1% | 4 |
| Middle Eastern | 23.6% | 4 |
| South Asian | 18.6% | 5 |
| African / African-American | 14.7% | 7 |
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
- ADCY2
- Protein
- p.Cys887=
- Coding
- c.2661C>T
- MANE Select
- NM_020546
- dbSNP
- rs2290910
- Type
- single nucleotide variant
- Location
- chr5:7802250 (GRCh38)
- Gene constraint
- LOEUF 0.329 · pLI 1.00 (gnomAD)
- Structure
- AlphaFold pLDDT 78.91
Similar variants
- ADCY2 p.Arg842Gln Uncertain significance ★★ ⚠ same type
- ADCY2 c.2094+16C>T Benign ★★ same type
- ADCY2 c.2094+6T>C Benign ★★ same type
- ADCY2 p.Ser928= Benign ★★ same type
- ADCY2 p.Ala634Val Uncertain significance ★ ⚠ same type
- ADCY2 p.Ala63Gly Uncertain significance ★ ⚠ same type
- ADCY2 p.Ala694Asp Uncertain significance ★ ⚠ same type
- ADCY2 p.Ala694Gly 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/adcy2-p-cys887 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown