NM_000535.7(PMS2):c.2T>A (p.Met1Lys) AND Hereditary cancer-predisposing syndrome
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Oct 31, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000160895.18
Allele description [Variation Report for NM_000535.7(PMS2):c.2T>A (p.Met1Lys)]
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
Condition(s)
- Name:
- Hereditary cancer-predisposing syndrome
- Synonyms:
- Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672
Assertion and evidence details
Last Updated: Oct 8, 2024