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     
?/? 1i c.-39-36C>G r.(?) p.(=) - - VUS g.32890523C>G g.32316386C>G - - BRCA2_001916 - - - - Unknown ? - - - - Frans BL Hogervorst
?/? 1i c.-39-36C>G r.(?) p.(=) - - VUS g.32890523C>G g.32316386C>G - - BRCA2_001916 - - - - Unknown ? - - - - Hans Gille
?/? 1i c.-39-36C>G r.(?) p.(=) - - VUS g.32890523C>G g.32316386C>G - - BRCA2_001916 - - - - Unknown ? - - - - Hans Gille
-?/. - c.-39-36C>G r.(=) p.(=) - - likely benign g.32890523C>G g.32316386C>G BRCA2(NM_000059.3):c.-39-36C>G - BRCA2_001916 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_NKI
-?/. - c.-39-36C>G r.(=) p.(=) - - likely benign g.32890523C>G g.32316386C>G BRCA2(NM_000059.3):c.-39-36C>G - BRCA2_001916 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 1i c.-39-36C>G r.(?) p.(=) - - VUS g.32890523C>G g.32316386C>G - - BRCA2_001916 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs183997506 Germline - 2/6603 cases - 0 - Lez J Burke
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