NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys) AND multiple conditions
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 4, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003224519.2
Allele description [Variation Report for NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)]
NM_000222.3(KIT):c.2564A>G (p.Tyr855Cys)
Condition(s)
- Name:
- Gastrointestinal stromal tumor
- Synonyms:
- Gastrointestinal Stromal Sarcoma; Gastrointestinal stromal tumor, somatic; Gastrointestinal stroma tumor
- Identifiers:
- MONDO: MONDO:0011719; MeSH: D046152; MedGen: C0238198; Orphanet: 44890; OMIM: 606764; Human Phenotype Ontology: HP:0100723
- Name:
- Piebaldism
- Synonyms:
- Piebald skin depigmentation
- Identifiers:
- MONDO: MONDO:0008244; MedGen: C0080024; Orphanet: 2884; OMIM: 172800; Human Phenotype Ontology: HP:0007544
- 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:
- Cutaneous mastocytosis
- Synonyms:
- MASTOCYTOSIS, MACULOPAPULAR CUTANEOUS; MASTOCYTOSIS, DIFFUSE CUTANEOUS
- Identifiers:
- MONDO: MONDO:0019023; MedGen: C1136033; OMIM: 154800; Human Phenotype Ontology: HP:0200151
Assertion and evidence details
Last Updated: May 12, 2024