NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001030563.8
Allele description [Variation Report for NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)]
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
Condition(s)
- Name:
- Hereditary breast ovarian cancer syndrome
- Synonyms:
- Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145
Assertion and evidence details
Last Updated: Nov 3, 2024