All variants in the BRCA2 gene

All records describing functional studies of specific variants.
BRCA2 variants classified by the ENIGMA consortium.
Variants associated with Fanconi anemia
A Fanconi anemia mutation database.
Information The variants shown are described using the NM_000059.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-/. _1 c.-296C>T r.(=) p.(=) - - benign g.32889548C>T g.32315411C>T - - BRCA2_006630 - PubMed: Burke 2018, Journal: Burke 2018 - rs563971900 Germline - 33/6603 cases - 0 - Lez J Burke
-/. _1 c.-296C>T r.(=) p.(=) - - benign g.32889548C>T g.32315411C>T - - BRCA2_006630 - PubMed: Burke 2018, Journal: Burke 2018 - rs563971900 Germline - 5/442 controls - 0 - Lez J Burke
+?/. _1 c.-296C>T r.(=) p.(=) - - NA g.32889548C>T g.32315411C>T - - BRCA2_006630 expression cloning luciferase assay 0.5x decreased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
Legend   How to query