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+192C>T r.(?) p.(=) - - benign g.32889996C>T g.32315859C>T - - BRCA2_003949 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.0417 (East Asian), derived from 1000 genomes (2013-05-02). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
?/. 1i c.-40+192C>T r.(?) p.(=) - - VUS g.32889996C>T g.32315859C>T - - BRCA2_003949 - - - - Germline - - - 0 - Rien Blok
?/. 1i c.-40+192C>T r.(?) p.(=) - - VUS g.32889996C>T g.32315859C>T - - BRCA2_003949 - - - - Germline - - - 0 - Rien Blok
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