NM_000059.3(BRCA2):c.1773_1776delTTAT (p.Ile591Metfs) AND Hereditary breast and ovarian cancer syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 16, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000043880.4
Allele description
NM_000059.3(BRCA2):c.1773_1776delTTAT (p.Ile591Metfs)
Condition(s)
- Name:
- Hereditary breast and ovarian cancer syndrome (HBOC)
- Synonyms:
- Hereditary breast and ovarian cancer
- Identifiers:
- MedGen: C0677776; Orphanet: 145
- Prevalence:
- http://www.ncbi.nlm.nih.gov/books/NBK1247/ https://www.ncbi.nlm.nih.gov/books/NBK1247
Assertion and evidence details
Last Updated: Jul 5, 2017