NM_000059.3(BRCA2):c.7230del (p.Phe2410fs) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001644680.1
Allele description
NM_000059.3(BRCA2):c.7230del (p.Phe2410fs)
Condition(s)
- Name:
- Breast-ovarian cancer, familial 2 (BROVCA2)
- Synonyms:
- BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2; Breast cancer, familial 2
- Identifiers:
- MONDO: MONDO:0012933; MedGen: C2675520; Orphanet: 145; OMIM: 612555
- Name:
- Breast-ovarian cancer, familial 1 (BROVCA1)
- Synonyms:
- BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; OVARIAN CANCER, SUSCEPTIBILITY TO; BREAST CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011450; MedGen: C2676676; Orphanet: 145; OMIM: 604370
Assertion and evidence details
Last Updated: Nov 11, 2021