ADCY6 p.Pro437=
c.1311G>T · rs147469347 · VCV740050
Benign
Multiple submitters
Classification
Benign
ClinVar
Review
Multiple submitters ★★☆☆
ClinVar · 2 submitters
gnomAD v4.1
Rare
rare (popmax 0.454%, afr)
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 -20 | GERP -4.4 |
| Overall | ||
| CADD | 0.033 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Grpmax group
0.454%
African / African-American · 341/75,048 alleles
Filtering AF
0.415%
ClinGen BA1/BS1 input
FAF95, joint · FAF99 0.399%
Overall
0.0245%
396/1,613,980 alleles · rare
exomes 199/1,461,678 · genomes 197/152,302 · joint denominator
| Ancestry group | Frequency | 1 in |
|---|---|---|
| African / African-Americangrpmax | 0.454% | 220 |
| Middle Eastern | 0.099% | 1,010 |
| Remaining individualsnot grpmax-eligible | 0.0352% | 2,841 |
| Admixed American | 0.03% | 3,334 |
| South Asian | 0.00769% | 13,011 |
| European (non-Finnish) | 0.000169% | 589,974 |
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
- ADCY6
- Protein
- p.Pro437=
- Coding
- c.1311G>T
- MANE Select
- NM_015270
- dbSNP
- rs147469347
- Type
- single nucleotide variant
- Location
- chr12:48777169 (GRCh38)
- Gene constraint
- LOEUF 0.639 · pLI <0.01 (gnomAD)
- Structure
- AlphaFold pLDDT 76.33
Similar variants
- ADCY6 p.Arg1065Trp Uncertain significance ★★ ⚠ same type
- ADCY6 p.Arg538His Uncertain significance ★★ ⚠ same type
- ADCY6 c.1376+168C>T Benign ★★ same type
- ADCY6 c.1377-56G>A Benign ★★ same type
- ADCY6 c.1833-29A>T Benign ★★ same type
- ADCY6 c.1981-11C>G Benign ★★ same type
- ADCY6 c.2283+57C>G Benign ★★ same type
- ADCY6 c.2442+40G>T Benign ★★ 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/adcy6-p-pro437 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown