← Genclarus

rs1799990

NM_000311.5(PRNP):c.385A>G (p.Met129Val)

PRNPmissense variantp.Met129Valsingle nucleotide variant
ClinVar by condition
  • Huntington disease-like 1 (HDL1)Benign · ★★ · germline
  • Inherited Creutzfeldt-Jakob diseaseLikely benign · ★ · unknown
  • Inherited Creutzfeldt-Jakob diseaseBenign · ★ · unknown
  • Gerstmann-Straussler-Scheinker syndrome (GSD)Benign · ★ · unknown
  • Fatal familial insomnia (FFI)Benign · ★ · unknown
  • Huntington disease-like 1 (HDL1)Benign · ★ · unknown
  • Kuru, susceptibility toBenign · ★ · unknown
  • Spongiform encephalopathy with neuropsychiatric featuresBenign · ★ · unknown
  • Inherited prion diseaseBenign · ★ · germline
  • Fatal familial insomnia (FFI)Benign · ★ · germline
  • Inherited Creutzfeldt-Jakob diseasePathogenic · germline
  • Fatal familial insomnia (FFI)Pathogenic · germline

gnomAD allele frequency 3.15e-1

rs1799990 is a genetic variant located in the PRNP gene. dbsnp · gene

In gnomAD, rs1799990 has an overall allele frequency of 31.5%. gnomad · frequency

In ClinVar, rs1799990 is classified as Benign for Huntington disease-like 1 (HDL1) (2 review stars, germline; last evaluated 2025-02-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799990 is classified as Likely benign for Inherited Creutzfeldt-Jakob disease (1 review star; last evaluated 2019-01-01). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799990 is classified as Benign for Inherited Creutzfeldt-Jakob disease (1 review star; last evaluated 2021-07-22). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799990 is classified as Benign for Gerstmann-Straussler-Scheinker syndrome (GSD) (1 review star; last evaluated 2021-07-22). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799990 is classified as Benign for Fatal familial insomnia (FFI) (1 review star; last evaluated 2021-07-22). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799990 is classified as Benign for Huntington disease-like 1 (HDL1) (1 review star; last evaluated 2021-07-22). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799990 is classified as Benign for Kuru, susceptibility to (1 review star; last evaluated 2021-07-22). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799990 is classified as Benign for Spongiform encephalopathy with neuropsychiatric features (1 review star; last evaluated 2021-07-22). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799990 is classified as Benign for Inherited prion disease (1 review star, germline; last evaluated 2017-04-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799990 is classified as Benign for Fatal familial insomnia (FFI) (1 review star, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs1799990 is classified as Pathogenic for Inherited Creutzfeldt-Jakob disease (0 review stars, germline; last evaluated 2008-11-26). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799990 is classified as Pathogenic for Fatal familial insomnia (FFI) (0 review stars, germline; last evaluated 2008-11-26). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799990 is classified as Uncertain significance for Autism spectrum disorder (0 review stars; last evaluated 2023-07-28). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs1799990 is classified as Likely benign for not provided (2 review stars, germline; last evaluated 2024-11-26). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs1799990 is classified as Likely benign for not specified (0 review stars, germline). clinvar · classificationclinvar · review confidenceclinvar · origin

Sources

retrieved 2026-08-03 · facts 230b2e4d2925d7fa · meta/llama-3.1-8b-instruct · prompt 4.0.1 · schema 3.0.0

Educational information only — not medical advice, a diagnosis, or a clinical interpretation. A variant's significance can be uncertain, conflicting, or dependent on your full clinical and family context. Consult a qualified genetics professional or genetic counselor before drawing any conclusion.