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.-39-2A>G r.spl p.? - - pathogenic g.32890557A>G g.32316420A>G - - BRCA2_001853 - - - - Unknown ? - - - - Ans M.W. van den Ouweland
?/? 1i c.-39-2A>G r.spl p.? - - VUS g.32890557A>G g.32316420A>G - - BRCA2_001853 - - - - Unknown ? - - - - Rob B. van der Luijt
+?/. - c.-39-2A>G r.spl? p.? - - likely pathogenic g.32890557A>G g.32316420A>G BRCA2(NM_000059.3):c.-39-2A>G - BRCA2_001853 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.-39-2A>G r.spl? p.? - - pathogenic g.32890557A>G g.32316420A>G BRCA2(NM_000059.3):c.-39-2A>G - BRCA2_001853 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 1i c.-39-2A>G r.spl p.? - - likely pathogenic g.32890557A>G g.32316420A>G - - BRCA2_001853 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - - Germline - 1/6603 cases - 0 - Lez J Burke
?/. - c.-39-2A>G r.spl? p.? - - NA g.32890557A>G - chr13_32890557_A_G - BRCA2_001853 not in 60466 cases; the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - 0 - BRIDGES consortium
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