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.-39-12_-39-10del r.(?) p.(?) - - VUS g.32890547_32890549del g.32316410_32316412del - - BRCA2_002316 - - - - Unknown ? - - 0 - Genevieve Michils
?/. 1i c.-39-12_-39-10del r.(?) p.(=) - - VUS g.32890547_32890549del g.32316410_32316412del - - BRCA2_002316 not in 442 controls PubMed: Burke 2018, Journal: Burke 2018 - rs276174798 Germline - 15/6603 cases - 0 - Lez J Burke
?/. 1i c.-39-12_-39-10del r.(?) p.(=) - - unclassified g.32890547_32890549del g.32316410_32316412del - - BRCA2_002316 classified as class 3, 4 or 5 in 1/12850 targeted tests and 1/25800 full screen tests: PHE release 2 BRCA germline variants (June 19, 2019). Entry from British diagnostic laboratories uploaded via Public Health England. Where benign/likely benign variants were excluded. Currently variants are classified as either "3, 4 or 5" or "1, 2, 3, 4 or 5". UK Variant Sharing Initiative - - CLASSIFICATION record - 2 cases - 0 - UK Variant Sharing Initiative
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