NM_000251.3(MSH2):c.1813G>A (p.Val605Ile) AND Lynch syndrome 1
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- May 18, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000986680.2
Allele description [Variation Report for NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)]
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)
Condition(s)
- Name:
- Lynch syndrome 1
- Synonyms:
- COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; Lynch syndrome I; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007356; MedGen: C2936783; Orphanet: 144; OMIM: 120435
Assertion and evidence details
Last Updated: Jun 23, 2024