NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs) AND Hereditary breast ovarian cancer syndrome
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Feb 2, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001293609.4
Allele description [Variation Report for NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)]
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
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: Feb 1, 2025