Annotation Detail

Information
Associated Genes
BRCA2
Associated Variants
BRCA2 p.Ala2911Gly (p.A2911G) ( ENST00000700202.2, ENST00000713680.1, ENST00000713678.1, ENST00000380152.8, ENST00000544455.6, ENST00000530893.7 )
BRCA2 p.Ala2911Gly (p.A2911G) ( ENST00000380152.8, ENST00000530893.7, ENST00000544455.6, ENST00000700202.2, ENST00000713678.1, ENST00000713680.1 )
Associated Disease
not specified
Source Database
ClinVar
Description
NM_000059.4(BRCA2):c.8732C>G (p.Ala2911Gly) AND not specified
ClinVar Allele ID
399465
ClinVar RefSeq Alternation Syntax
NM_000059.4:c.8732C>G
Clinical Significance Description
Uncertain significance
Clinical Significance Last Update
2018-12-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000780042
ClinVar Disease
not specified
Observed Origin Sample
germline
Drugs