NM_000251.3(MSH2):c.972G>A (p.Gln324=) AND Lynch syndrome 1
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Mar 21, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000409097.9
Allele description [Variation Report for NM_000251.3(MSH2):c.972G>A (p.Gln324=)]
NM_000251.3(MSH2):c.972G>A (p.Gln324=)
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: Nov 3, 2024