NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- May 5, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000850053.5
Allele description [Variation Report for NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter)]
NM_004329.3(BMPR1A):c.730C>T (p.Arg244Ter)
Condition(s)
- 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: May 7, 2024