NM_000179.3(MSH6):c.3986C>A (p.Ser1329Ter) AND Endometrial carcinoma
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Feb 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003461953.1
Allele description [Variation Report for NM_000179.3(MSH6):c.3986C>A (p.Ser1329Ter)]
NM_000179.3(MSH6):c.3986C>A (p.Ser1329Ter)
Condition(s)
- Name:
- Endometrial carcinoma
- Synonyms:
- Endometrial carcinoma, somatic
- Identifiers:
- MONDO: MONDO:0002447; MedGen: C0476089; OMIM: 608089; Human Phenotype Ontology: HP:0012114
Assertion and evidence details
Last Updated: Dec 30, 2023