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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/+ _1_2i c.-227_(67+1_68-1){0} r.spl? p.? - kConFab likely pathogenic g.(?_32889617)_(32890665_32893213)del - BRCA2 del exons 1_2 - BRCA2_003754 - kConFab variant classification: LGR - - Germline - 5/1658 - 0 - kConFab - Heather Thorne
+/. _1_2i c.-227_(67+1_68-1){0} r.0? p.0? - - pathogenic g.(?_32889617)_(32890665_32893213)del - c.-227-?_67+?del - BRCA2_003754 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-227_(67+1_68-1){0} r.0? p.0? - - pathogenic g.(?_32889617)_(32890665_32893213)del - c.-227-?_67+?del - BRCA2_003754 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-227_(67+1_68-1){0} r.0? p.0? - - pathogenic g.(?_32889617)_(32890665_32893213)del - c.-227-?_67+?del - BRCA2_003754 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
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