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.

9 entries on 1 page. Showing entries 1 - 9.
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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     
?/. 2 c.? r.(?) p.? - - VUS g.? - T289A - BRCA2_000000 - PubMed: Briceno-Balcazar 2017 - - Germline - - - 0 - Johan den Dunnen
?/. - c.? r.(?) p.? - - VUS g.? - P218L - BRCA2_000000 - PubMed: Briceno-Balcazar 2017 - - Germline - - - 0 - Johan den Dunnen
+/. - c.? r.? p.? - - pathogenic g.? - 5034_504del - BRCA2_000000 - PubMed: Abulkhair 2018, Journal: Laitman 2019 - - Germline - - - 0 - Eitan Friedman
?/. - c.? r.? p.? - - VUS g.? - 1-40delGA - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 86) - - Germline - 1/133 cases - 0 - Johan den Dunnen
?/. - c.? r.? p.? - - VUS g.? - 7436_7805del370 - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 54, 79) - - Germline - 3/651 cases - 0 - Johan den Dunnen
?/. - c.? r.? p.? - - VUS g.? - 7805_7806insTTGTTCAG - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 49) - - Germline - 1/119 cases - 0 - Johan den Dunnen
?/. - c.? r.? p.? - - VUS g.? - 9354_9816del463 - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 79) - - Germline - - - 0 - Johan den Dunnen
?/. - c.? r.? p.? - - VUS g.? - 10462A>G - BRCA2_000000 - PubMed: Bhaskaran 2019 - (refs 1, 8, 35, 41) - - Germline - 3/253 cases - 0 - Johan den Dunnen
+?/. 1i_2i c.? r.? p.? - - likely pathogenic g.? - del ex2 - BRCA2_000000 - PubMed: Moreno-Cabrera 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
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