NM_002485.5(NBN):c.2140C>T (p.Arg714Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 19, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000515171.3
Allele description [Variation Report for NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)]
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
Condition(s)
- Name:
- Microcephaly, normal intelligence and immunodeficiency (NBS)
- Synonyms:
- IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY; SEEMANOVA SYNDROME II; Nijmegen breakage syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009623; MedGen: C0398791; Orphanet: 647; OMIM: 251260
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
- Name:
- Acute lymphoid leukemia (ALL)
- Synonyms:
- Acute lymphoblastic leukemia; Leukemia, acute lymphoblastic, somatic; Lymphoblastic leukemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0004967; MedGen: C0023449; Orphanet: 513; OMIM: 613065; Human Phenotype Ontology: HP:0006721
Assertion and evidence details
Last Updated: May 7, 2024