rs1042522
NM_000546.6(TP53):c.215C>G (p.Pro72Arg)
- Li-Fraumeni syndrome (LFS)Benign · ★★ · germline
- Hereditary cancer-predisposing syndromeBenign · ★★ · germline
- Li-Fraumeni syndrome 1 (LFS)Benign · ★★ · germline
- Hereditary breast ovarian cancer syndromeBenign · ★★ · germline
- Adrenocortical carcinoma, hereditary (ADCC)Benign · ★ · unknown
- Familial cancer of breastBenign · ★ · unknown
- Glioma susceptibility 1 (GLM1)Benign · ★ · unknown
- Bone osteosarcomaBenign · ★ · unknown
- Li-Fraumeni syndrome 1 (LFS)Benign · ★ · unknown
- Nasopharyngeal carcinomaBenign · ★ · unknown
- Carcinoma of pancreasBenign · ★ · unknown
- Choroid plexus papilloma (CPP)Benign · ★ · unknown
gnomAD allele frequency 6.21e-1
rs1042522 is a genetic variant located in the TP53 gene. dbsnp · gene
In gnomAD, rs1042522 has an overall allele frequency of 62.1%. gnomad · frequency
In ClinVar, rs1042522 is classified as Benign for Li-Fraumeni syndrome (LFS) (2 review stars, germline; last evaluated 2025-02-04). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Hereditary cancer-predisposing syndrome (2 review stars, germline; last evaluated 2022-06-18). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Li-Fraumeni syndrome 1 (LFS) (2 review stars, germline; last evaluated 2022-06-18). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Hereditary breast ovarian cancer syndrome (2 review stars, germline; last evaluated 2022-04-19). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Adrenocortical carcinoma, hereditary (ADCC) (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Familial cancer of breast (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Glioma susceptibility 1 (GLM1) (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Bone osteosarcoma (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Li-Fraumeni syndrome 1 (LFS) (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Nasopharyngeal carcinoma (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Carcinoma of pancreas (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Choroid plexus papilloma (CPP) (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Basal cell carcinoma, susceptibility to, 7 (BCC7) (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Hepatocellular carcinoma (HCC) (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Colorectal cancer (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Bone marrow failure syndrome 5 (1 review star; last evaluated 2021-12-20). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 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, rs1042522 is classified as Benign for TP53 POLYMORPHISM (0 review stars; last evaluated 2009-10-01). clinvar · classificationclinvar · review confidenceclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for Acute myeloid leukemia (AML) (0 review stars, somatic). clinvar · classificationclinvar · review confidenceclinvar · origin
In ClinVar, rs1042522 is classified as Benign for not provided (2 review stars, germline; last evaluated 2024-11-27). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
In ClinVar, rs1042522 is classified as Benign for not specified (2 review stars, germline; last evaluated 2016-04-05). clinvar · classificationclinvar · review confidenceclinvar · originclinvar · assertion date
retrieved 2026-08-03 · facts c8dc881ed5a10176 · 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.