NM_004360.5(CDH1):c.377C>T (p.Pro126Leu) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000765302.5
Allele description [Variation Report for NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)]
NM_004360.5(CDH1):c.377C>T (p.Pro126Leu)
Condition(s)
- Name:
- Familial cancer of breast
- Synonyms:
- Breast cancer, familial
- Identifiers:
- MONDO: MONDO:0016419; MedGen: C0346153; OMIM: 114480
- Name:
- Blepharocheilodontic syndrome 1 (BCDS1)
- Identifiers:
- MONDO: MONDO:0054740; MedGen: C4551988; Orphanet: 1997; OMIM: 119580
- Name:
- Endometrial carcinoma
- Synonyms:
- Endometrial carcinoma, somatic
- Identifiers:
- MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114
- Name:
- Hereditary diffuse gastric adenocarcinoma (HDGC)
- Synonyms:
- Hereditary diffuse gastric cancer
- Identifiers:
- MONDO: MONDO:0007648; MedGen: C1708349; Orphanet: 26106; OMIM: 137215
- Name:
- Ovarian neoplasm
- Synonyms:
- Neoplasm of ovary; Ovarian tumor; Ovarian Neoplasms
- Identifiers:
- MONDO: MONDO:0021068; MeSH: D010051; MedGen: C0919267; Human Phenotype Ontology: HP:0100615
- Name:
- Malignant tumor of prostate
- Synonyms:
- Prostate cancer
- Identifiers:
- MONDO: MONDO:0008315; MedGen: C0376358; Orphanet: 1331; Human Phenotype Ontology: HP:0012125
Assertion and evidence details
Last Updated: Jul 15, 2024