NM_000251.3(MSH2):c.482T>C (p.Val161Ala) AND Ependymoma
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 23, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002286419.1
Allele description [Variation Report for NM_000251.3(MSH2):c.482T>C (p.Val161Ala)]
NM_000251.3(MSH2):c.482T>C (p.Val161Ala)
Condition(s)
- Name:
- Ependymoma
- Synonyms:
- Ependymoma, familial; Clear cell ependymoma (histologic variant); Papillary ependymoma (histologic variant); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0016698; MeSH: D004806; MedGen: C0014474; Human Phenotype Ontology: HP:0002888
Assertion and evidence details
Last Updated: Jun 9, 2024