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     
+?/. - c.-39-1_-39del r.spl p.? - - likely pathogenic g.32890558_32890559del g.32316421_32316422del -39-1_-39delGA - BRCA2_006069 - PubMed: Bhaskaran 2019 - (refs 79) - rs1064794852 Germline - - - 0 - Johan den Dunnen
+?/. 1i_2 c.-39-1_-39del r.spl p.? - - likely pathogenic (dominant) g.32890558_32890559del g.32316421_32316422del -39-2_-39-1delAG - BRCA2_006069 - Journal: Gao 2020 as reported in: PubMed: Kwong 2016, Journal: Kwong 2016, PubMed: Cao 2016, Journal: Cao 2016 - - Germline - 2 families/patients - 0 - Xianqi Gao
?/. - c.-39-1_-39del r.spl? p.? - - NA g.32890558_32890559del - chr13_32890556_CAG_C - BRCA2_006069 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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