NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu) AND Familial adenomatous polyposis 2
- Germline classification:
- Conflicting interpretations of pathogenicity (3 submissions)
- Last evaluated:
- Jan 26, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000457983.14
Allele description [Variation Report for NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)]
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
Condition(s)
- Name:
- Familial adenomatous polyposis 2
- Synonyms:
- COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE; ADENOMAS, MULTIPLE COLORECTAL, AUTOSOMAL RECESSIVE; MYH-associated polyposis; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012041; MedGen: C3272841; Orphanet: 220460; OMIM: 608456
Assertion and evidence details
Last Updated: Sep 29, 2024