← Genclarus

rs28934578

NM_000546.6(TP53):c.524G>A (p.Arg175His)

TP53missense variantp.Arg175Hissingle nucleotide variant
ClinVar by condition
  • Li-Fraumeni syndrome (LFS)Pathogenic · ★★★ · germline
  • Hereditary cancer-predisposing syndromePathogenic · ★★ · germline
  • Li-Fraumeni syndrome 1 (LFS)Pathogenic · ★★ · germline
  • TP53-related disorderPathogenic · ★ · somatic
  • Adrenocortical carcinoma, hereditary (ADCC)Pathogenic · ★ · unknown
  • Familial cancer of breastPathogenic · ★ · unknown
  • Glioma susceptibility 1 (GLM1)Pathogenic · ★ · unknown
  • Bone osteosarcomaPathogenic · ★ · unknown
  • Li-Fraumeni syndrome 1 (LFS)Pathogenic · ★ · unknown
  • Nasopharyngeal carcinomaPathogenic · ★ · unknown
  • Carcinoma of pancreasPathogenic · ★ · unknown
  • Choroid plexus papilloma (CPP)Pathogenic · ★ · unknown

rs28934578 is a genetic variant located in the TP53 gene. dbsnp · gene

In ClinVar, rs28934578 is classified as Pathogenic for Li-Fraumeni syndrome (LFS) (3 review stars, germline; last evaluated 2024-09-06). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Hereditary cancer-predisposing syndrome (2 review stars, germline; last evaluated 2024-12-09). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Li-Fraumeni syndrome 1 (LFS) (2 review stars, germline; last evaluated 2024-11-12). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for TP53-related disorder (1 review star, somatic; last evaluated 2024-05-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Adrenocortical carcinoma, hereditary (ADCC) (1 review star; last evaluated 2024-03-28). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Familial cancer of breast (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Glioma susceptibility 1 (GLM1) (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Bone osteosarcoma (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Li-Fraumeni syndrome 1 (LFS) (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Nasopharyngeal carcinoma (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Carcinoma of pancreas (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Choroid plexus papilloma (CPP) (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Basal cell carcinoma, susceptibility to, 7 (BCC7) (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Hepatocellular carcinoma (HCC) (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Colorectal cancer (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Bone marrow failure syndrome 5 (1 review star; last evaluated 2022-04-10). clinvar · classificationclinvar · review confidenceclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Squamous cell carcinoma of the head and neck (HNSCC) (1 review star, somatic). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs28934578 is classified as Pathogenic for Colorectal cancer (1 review star, somatic). clinvar · classificationclinvar · review confidenceclinvar · origin

In ClinVar, rs28934578 is classified as Pathogenic for Gastric cancer (0 review stars, germline; last evaluated 2021-07-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Familial cancer of breast (0 review stars, somatic; last evaluated 2021-03-19). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Lip and oral cavity carcinoma (0 review stars, somatic; last evaluated 2019-04-30). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for Malignant tumor of esophagus (0 review stars, somatic; last evaluated 2016-07-29). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28934578 is classified as Likely pathogenic for Ovarian neoplasm (0 review stars, somatic; last evaluated 2018-12-01). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

In ClinVar, rs28934578 is classified as Pathogenic for not provided (2 review stars, germline; last evaluated 2025-03-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date

Sources

retrieved 2026-08-03 · facts 04114ba807ed65a2 · 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.