ADCY10 p.Phe656=
c.1968T>C · rs2071922 · VCV1164409
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 5 submitters
gnomAD v4.1
Common
common (popmax 41.7%, eas) — 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 -0.62 | GERP -3.2 |
| Overall | ||
| CADD | 4.586 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
41.7%
East Asian · 18,707/44,856 alleles
Filtering AF
41.2%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 41%
Overall
13.6%
219,590/1,613,870 alleles · common
| Ancestry group | Frequency | 1 in |
|---|---|---|
| East Asiangrpmax | 41.7% | 2 |
| Admixed American | 30.1% | 3 |
| Middle Eastern | 22.3% | 4 |
| Finnishnot grpmax-eligible | 20% | 5 |
| South Asian | 19.1% | 5 |
| Amishnot grpmax-eligible | 15.5% | 6 |
| Ashkenazi Jewishnot grpmax-eligible | 15.1% | 7 |
| Remaining individualsnot grpmax-eligible | 14.8% | 7 |
| European (non-Finnish) | 11% | 9 |
| African / African-American | 9.78% | 10 |
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
- ADCY10
- Protein
- p.Phe656=
- Coding
- c.1968T>C
- MANE Select
- NM_018417
- dbSNP
- rs2071922
- Type
- single nucleotide variant
- Location
- chr1:167856368 (GRCh38)
- Gene constraint
- LOEUF 0.922 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 81.17 · 37 PDB
Similar variants
- ADCY10 c.1139+6T>G Uncertain significance ★★ same type
- ADCY10 c.253+4A>G Uncertain significance ★★ same type
- ADCY10 p.Ala103Ser Uncertain significance ★★ ⚠ same type
- ADCY10 p.Ala1278Asp Uncertain significance ★★ ⚠ same type
- ADCY10 p.Ala862Gly Uncertain significance ★★ ⚠ same type
- ADCY10 p.Ala991Ser Uncertain significance ★★ ⚠ same type
- ADCY10 p.Arg1207Trp Uncertain significance ★★ ⚠ same type
- ADCY10 p.Arg1217His 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/adcy10-p-phe656 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown