Annotation Detail

Information
Associated Genes
RAD51 LOC130056864
Associated Variants
RAD51 c.-98G>C ( ENST00000382643.7, ENST00000423169.6, ENST00000557850.5, ENST00000645673.2, ENST00000267868.8 )
RAD51 c.-98G>C ( ENST00000267868.8, ENST00000382643.7, ENST00000423169.6, ENST00000557850.5, ENST00000645673.2 )
Associated Disease
Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers
Source Database
ClinVar
Description
NM_002875.5(RAD51):c.-98G>C AND Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers
ClinVar Allele ID
28167
ClinVar RefSeq Alternation Syntax
NM_002875.5:c.-98G>C
ClinVar RefSeq Alternation Syntax
NM_133487.4:c.-98G>C
ClinVar RefSeq Alternation Syntax
NM_001164269.2:c.-3+9G>C
ClinVar RefSeq Alternation Syntax
NM_001164270.2:c.-98G>C
Clinical Significance Description
risk factor
Clinical Significance Last Update
2007-12-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000014008
ClinVar Disease
Breast cancer, susceptibility to, in BRCA1 and BRCA2 carriers
Observed Origin Sample
germline
Pubmed
11248061
Pubmed
17999359
Drugs