NM_198253.3(TERT):c.1932G>A (p.Thr644=) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Mar 17, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496837.8
Allele description [Variation Report for NM_198253.3(TERT):c.1932G>A (p.Thr644=)]
NM_198253.3(TERT):c.1932G>A (p.Thr644=)
Condition(s)
- Name:
- Interstitial lung disease 2 (ILD2)
- Synonyms:
- Fibrosing alveolitis, cryptogenic; Familial idiopathic pulmonary fibrosis; Fibrocystic pulmonary dysplasia
- Identifiers:
- MONDO: MONDO:0800029; MedGen: C5561926; Orphanet: 2032; Orphanet: 79126; OMIM: 178500
- Name:
- Aplastic anemia
- Identifiers:
- MONDO: MONDO:0015909; MedGen: C0002874; Orphanet: 88; OMIM: 609135; Human Phenotype Ontology: HP:0001915
- Name:
- Dyskeratosis congenita, autosomal dominant 1 (DKCA1)
- Synonyms:
- Dyskeratosis congenita autosomal dominant; Dyskeratosis congenita Scoggins type
- Identifiers:
- MONDO: MONDO:0007485; MedGen: C4551974; Orphanet: 1775; OMIM: 127550
- Name:
- Acute myeloid leukemia (AML)
- Synonyms:
- Acute myeloid leukemia, adult; AML adult; Acute myelogenous leukemia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0018874; MeSH: D015470; MedGen: C0023467; Orphanet: 519; OMIM: 601626; Human Phenotype Ontology: HP:0004808
- Name:
- Dyskeratosis congenita, autosomal dominant 2
- Identifiers:
- MONDO: MONDO:0013521; MedGen: C3151443; OMIM: 613989
Assertion and evidence details
Last Updated: Sep 8, 2024