NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 10, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002490776.2
Allele description [Variation Report for NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)]
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
Condition(s)
- Name:
- Adrenocortical carcinoma, hereditary (ADCC)
- Identifiers:
- MONDO: MONDO:0008734; MedGen: C1859972; Orphanet: 1501; OMIM: 202300
- Name:
- Familial cancer of breast
- Synonyms:
- Breast cancer, familial
- Identifiers:
- MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
- Name:
- Glioma susceptibility 1 (GLM1)
- Synonyms:
- Glioblastoma, somatic
- Identifiers:
- MONDO: MONDO:0024498; MedGen: C2750850; OMIM: 137800
- Name:
- Bone osteosarcoma
- Synonyms:
- Osteosarcoma, somatic
- Identifiers:
- MONDO: MONDO:0002629; MedGen: C0585442; Orphanet: 668; OMIM: 259500
- Name:
- Li-Fraumeni syndrome 1 (LFS)
- Identifiers:
- Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623
- Name:
- Nasopharyngeal carcinoma
- Synonyms:
- Nasopharyngeal carcinoma, somatic
- Identifiers:
- MONDO: MONDO:0015459; MedGen: C2931822; Orphanet: 150; OMIM: 607107
- Name:
- Carcinoma of pancreas
- Synonyms:
- PANCREATIC ACINAR CARCINOMA; PANCREATIC CARCINOMA; Pancreatic cancer, somatic; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0005192; MeSH: C562463; MedGen: C0235974; Orphanet: 1333
- Name:
- Choroid plexus papilloma (CPP)
- Synonyms:
- Papilloma of choroid plexus
- Identifiers:
- MONDO: MONDO:0009837; MedGen: C0205770; Orphanet: 251899; OMIM: 260500; Human Phenotype Ontology: HP:0200022
- Name:
- Basal cell carcinoma, susceptibility to, 7 (BCC7)
- Identifiers:
- MONDO: MONDO:0013876; MedGen: C3553606; OMIM: 614740
- Name:
- Hepatocellular carcinoma (HCC)
- Synonyms:
- Primary carcinoma of liver; Hepatoma; LIVER CELL CARCINOMA; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007256; MedGen: C2239176; OMIM: 114550; Human Phenotype Ontology: HP:0001402
-
RecName: Full=Testis-specific Y-encoded-like protein 1; Short=TSPY-like protein ...
RecName: Full=Testis-specific Y-encoded-like protein 1; Short=TSPY-like protein 1gi|209572711|sp|Q9H0U9.3|TSYL1_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Aug 25, 2024