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.
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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     
+?/. 1i c.-40+1G>A r.-138_-40del p.(=) - - NA g.32889805G>A g.32315668G>A c.-40+1G>A - BRCA2_000520 Embryonic stem cell assay, RNA analysis; strong functional effect, disruption exon 1 donor site, use of alternative donor site middle of exon 1 (BRCA2 c.-139) PubMed: Bakker 2014 - - In vitro (cloned) - - - 0 - Janine Bakker
+/. 1i c.-40+1G>A r.spl p.0? - - pathogenic g.32889805G>A g.32315668G>A g.988G>A, c.-806G>A - BRCA2_000520 - - - - Germline - - - 0 - Florentia Fostira
+/. 1i c.-40+1G>A r.spl p.? - - pathogenic g.32889805G>A g.32315668G>A g.988G>A - BRCA2_000520 - Laitman, submitted - - Germline - - - 0 - Eitan Friedman
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