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.

6 entries on 1 page. Showing entries 1 - 6.
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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_27_ c.-227_*902{0} r.0? p.0? - - pathogenic g.(?_32889617)_(32973809_?)del - - - BRCA2_001843 - - - - Unknown ? - - - - Ans M.W. van den Ouweland
+/+ _1_27_ c.-227_*902{0} r.0 p.0 - kConFab pathogenic g.(?_32889617)_(32973809_?)del - BRCA2 del exons 1_27, c.(?_-227)_(*902_?)del - BRCA2_001843 - kConFab variant classification: P - - Germline - 1/1658 - 0 - kConFab - Heather Thorne
+/. _1_27_ c.-227_*902{0} r.0 p.0 - - pathogenic g.(?_32889617)_(32973809_?)del - c.(?_1)_(*_?)del - BRCA2_001843 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
+/. _1_27_ c.-227_*902{0} r.0? p.0? - - pathogenic g.(?_32889617)_(32973809_?)del - c.-227-?_10257+?del - BRCA2_001843 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_27_ c.-227_*902{0} r.0? p.0 - - pathogenic (dominant) g.(?_32889617)_(32973809_?)del - total deletion - BRCA2_001843 - PubMed: Lecarpentier 2012 - - Germline - - - 0 - Johan den Dunnen
+/. _1_27_ c.-227_*902{0} r.? p.? - - pathogenic (dominant) g.(?_32889617)_(32973809_?)del - LRG_293:g.(5982_882910)del - BRCA2_001843 minimum size deletion 104 kb Van Der Merwe 2020, submitted - - Germline/De novo (untested) - 1/744 cases - 0 - Nerina Chrisna van der Merwe
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