NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter) AND Colonic neoplasm
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 12, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001644830.9
Allele description [Variation Report for NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)]
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)
Condition(s)
- Name:
- Colonic neoplasm
- Synonyms:
- Colonic Neoplasms; Neoplasm of the colon
- Identifiers:
- MONDO: MONDO:0005401; MeSH: D003110; MedGen: C0009375; Human Phenotype Ontology: HP:0100273
Assertion and evidence details
Last Updated: May 19, 2024