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.

7 entries on 1 page. Showing entries 1 - 7.
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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     
+/. 20i_24_ c.(5277+1_5278-1)_*1383{0} r.? p.? - ACMG pathogenic (dominant) g.(?_41196312)_(41203135_41209068)del - del ex21-24 - BRCA1_001691 - PubMed: Evans 2022 - - Germline - - - 0 - Johan den Dunnen
+/+ 20i_24_ c.(5277+1_5278-1)_*1383{0} r.spl? p.? - kConFab likely pathogenic g.(?_41196312)_(41203135_41209068)del - del exons 21_24 - BRCA1_002984 - kConFab variant classification: LGR - - Germline - 9/1658 - 0 - kConFab - Heather Thorne
+/. 20i_24_ c.(5277+1_5278-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41203135_41209068)del - c.5278-?_5592+?del - BRCA1_001691 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 20i_24_ c.(5277+1_5278-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41203135_41209068)del - c.5278-?_5592+?del - BRCA1_001691 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 20i_24_ c.(5277+1_5278-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41203135_41209068)del - c.5278-?_5592+?del - BRCA1_001691 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 20i_24_ c.(5277+1_5278-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41203135_41209068)del - c.5278-?_5592+?del - BRCA1_001691 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 20i_24_ c.(5277+1_5278-1)_*1383{0} r.spl p.? - - pathogenic (dominant) g.(?_41196312)_(41203135_41209068)del - 5272_5592del - BRCA1_001691 - PubMed: Lecarpentier 2012 - - Germline - - - 0 - Johan den Dunnen
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