PRKAR1A p.Asp80=
c.240T>C · rs2085658662 · VCV2093876
Likely benign
Single submitter
Classification
Likely benign
ClinVar
Review
Single submitter ★☆☆☆
ClinVar · 1 submitter
gnomAD v4.1
Absent
absent from gnomAD v4.1
Conditions
1
Carney complex, type 1
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 -0.29 | GERP -0.26, phastCons 0.37 |
| Overall | ||
| CADD | 11.86 | PHRED · no single calibrated threshold — expert panels disagree |
Population frequency
gnomAD v4.1 · exomes + genomes
Absent from gnomAD v4.1. Not observed in any sequenced alleles — a rarity signal (ACMG PM2-supporting), not evidence of pathogenicity on its own.
Variant & gene context
- Gene
- PRKAR1A
- Protein
- p.Asp80=
- Coding
- c.240T>C
- MANE Select
- NM_002734
- dbSNP
- rs2085658662
- Type
- single nucleotide variant
- Location
- chr17:68522818 (GRCh38)
- Gene constraint
- LOEUF 0.158 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
- Structure
- AlphaFold pLDDT 87.95 · 3 PDB
- Residue 80
- the 'dimerization and phosphorylation' region; the 'disordered' region
Disease context
Carney complex, type 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatmentsFor Carney complex (Orphanet):
- Inheritance
- Autosomal dominant
- Onset
- Infancy, Neonatal
Similar variants
- PRKAR1A p.Asp80Glu Uncertain significance ★★ ⚠ same residue
- PRKAR1A p.Asp80Gly Uncertain significance ★★ ⚠ same residue
- PRKAR1A p.Asp80Tyr Conflicting classifications of pathogenicity ★ ⚠ same residue
- PRKAR1A p.Asp80Val Uncertain significance ★ ⚠ same residue
- PRKAR1A c.502+1G>A Pathogenic/Likely pathogenic ★★ same condition
- PRKAR1A c.549+1G>A Pathogenic/Likely pathogenic ★★ same condition
- PRKAR1A c.891+1G>A Likely pathogenic ★★ same condition
- PRKAR1A c.891+3A>G Likely pathogenic ★★ 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/prkar1a-p-asp80 (accessed [today's date]).
Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown