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.

5 entries on 1 page. Showing entries 1 - 5.
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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.-192T>C r.(?) p.(=) - - benign g.41277460A>G g.43125443A>G - - BRCA1_004585 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.02033 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - 0 - ENIGMA consortium
-?/. 1 c.-192T>C r.(?) p.(=) - - likely benign g.41277460A>G g.43125443A>G BRCA1(NM_007294.3):c.-192T>C - BRCA1_004585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/- 1 c.-192T>C r.(?) p.(=) - - benign g.41277460A>G g.43125443A>G - - BRCA1_004585 not in 1103 controls PubMed: Burke 2018, Journal: Burke 2018 - rs113323025 Germline - 4/6475 cases - 0 - Lez J Burke
+?/. 1 c.-192T>C r.(=) p.(=) - - NA g.41277460A>G g.43125443A>G - - BRCA1_004585 expression cloning luciferase assay 0.7x decreased (MCF7 cells) PubMed: Burke 2018, Journal: Burke 2018 - - In vitro (cloned) - - - 0 - Lez J Burke
-/. - c.-192T>C r.(?) p.(=) - - benign g.41277460A>G - BRCA1(NM_007294.3):c.-192T>C - BRCA1_004585 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_NKI
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