NM_000314.8(PTEN):c.740T>A (p.Leu247Ter) AND PTEN hamartoma tumor syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jul 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000704056.4
Allele description [Variation Report for NM_000314.8(PTEN):c.740T>A (p.Leu247Ter)]
NM_000314.8(PTEN):c.740T>A (p.Leu247Ter)
Condition(s)
- Name:
- PTEN hamartoma tumor syndrome (PHTS)
- Synonyms:
- PTEN Hamartomatous Tumour Syndrome; PTEN-related disorders
- Identifiers:
- MONDO: MONDO:0017623; MeSH: D006223; MedGen: C1959582
Assertion and evidence details
Last Updated: May 1, 2024