NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter) AND Microcephaly, normal intelligence and immunodeficiency
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Oct 30, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000698449.11
Allele description [Variation Report for NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)]
NM_002485.5(NBN):c.2238C>A (p.Tyr746Ter)
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
Assertion and evidence details
Last Updated: Feb 14, 2024