NM_000251.2(MSH2):c.1865C>A (p.Pro622Gln) AND Lynch syndrome I
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 20, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000490605.1
Allele description
NM_000251.2(MSH2):c.1865C>A (p.Pro622Gln)
Condition(s)
- Name:
- Lynch syndrome I (COCA1)
- Synonyms:
- COLON CANCER, FAMILIAL NONPOLYPOSIS, TYPE 1; COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 1; MSH2-Related Hereditary Non-Polyposis Colon Cancer; See all synonyms [MedGen]
- Identifiers:
- MedGen: C2936783; Orphanet: 144; OMIM: 120435
Assertion and evidence details
Last Updated: Aug 26, 2019