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 c.-52A>G r.(=) p.(=) - - benign g.32889792A>G g.32315655A>G - - BRCA2_003404 - shared by Quest Diagnostics - rs206118 Unknown - - - 0 - Quest Diagnostics
-/- 1 c.-52A>G r.(?) p.(=) - - benign g.32889792A>G g.32315655A>G - - BRCA2_003404 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.1836 (Asian), 0.126 (African), 0.1636 (European), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/. - c.-52A>G r.(?) p.(=) - - benign g.32889792A>G g.32315655A>G BRCA2(NM_000059.3):c.-52A>G - BRCA2_003404 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. 1 c.-52A>G r.(?) p.(=) - - benign g.32889792A>G g.32315655A>G - - BRCA2_003404 - - - rs206118 Germline - 1/2300 cases - 0 - Angela Solano & F Cardoso
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