NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg) AND multiple conditions
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002319001.9
Allele description [Variation Report for NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)]
NM_005359.6(SMAD4):c.1495T>C (p.Cys499Arg)
Condition(s)
- Name:
- Familial thoracic aortic aneurysm and aortic dissection (TAAD)
- Synonyms:
- Thoracic aortic aneurysm and aortic dissection; Thoracic aortic aneurysms and dissections
- Identifiers:
- MONDO: MONDO:0019625; MedGen: C4707243; Orphanet: 91387; OMIM: PS607086
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Last Updated: Nov 10, 2024