All variants in the BRCA1 gene

All records describing functional studies of specific variants. BRCA1 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_007294.3 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     
-/- _1 c.-273G>A r.(?) p.(=) - - benign g.41277541C>T g.43125524C>T - - BRCA1_004586 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-/- _1 c.-273G>A r.(=) p.(=) - - benign g.41277541C>T g.43125524C>T - - BRCA1_004586 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs112960339 Germline - 4/6475 cases - 0 - Lez J Burke
?/. 1 c.-273G>A r.= p.= - - NA g.41277541C>T g.43125524C>T - - BRCA1_004586 expression cloning luciferase assay no effect PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
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