Annotation Detail
Information
- Associated Genes
- BRCA2
- Associated Variants
-
BRCA2 p.Val1283LysfsTer2 (p.V1283Kfs*2)
(
ENST00000380152.8,
ENST00000530893.7,
ENST00000544455.6,
ENST00000700202.2,
ENST00000713678.1,
ENST00000713680.1 )
BRCA2 p.Val1283LysfsTer2 (p.V1283Kfs*2) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 ) - Associated Disease
- Breast-ovarian cancer, familial, susceptibility to, 2 Malignant tumor of prostate medulloblastoma Wilms tumor 1 Familial cancer of breast Fanconi anemia complementation group D1 Glioma susceptibility 3 Pancreatic cancer, susceptibility to, 2
- Source Database
- ClinVar
- Description
- NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) AND multiple conditions
- ClinVar Allele ID
- 46415
- ClinVar RefSeq Alternation Syntax
- NM_000059.4:c.3847_3848del
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2022-03-30
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002496481
- ClinVar Disease
- Fanconi anemia complementation group D1
- ClinVar Disease
- Malignant tumor of prostate
- ClinVar Disease
- Medulloblastoma
- ClinVar Disease
- Wilms tumor 1
- ClinVar Disease
- Breast-ovarian cancer, familial, susceptibility to, 2
- ClinVar Disease
- Familial cancer of breast
- ClinVar Disease
- Pancreatic cancer, susceptibility to, 2
- ClinVar Disease
- Glioma susceptibility 3
- Observed Origin Sample
- unknown
Drugs