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.

31 entries on 1 page. Showing entries 1 - 31.
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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_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - Ans M.W. van den Ouweland
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - Genevieve Michils
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - Juul Wijnen
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - Marjolijn JL Ligtenberg
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - Marjolijn JL Ligtenberg
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - Rob B. van der Luijt
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - 0 - Frans BL Hogervorst
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - Rob B. van der Luijt
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - Karin Segers
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - Karin Segers
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - Karin Segers
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - Karin Segers
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - Karin Segers
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - Karin Segers
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - Pascale Hilbert
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - Pascale Hilbert
+/+ _1_24_ c.(?_-232)_(*1383_?)del r.spl? p.? - kConFab likely pathogenic g.(?_41196312)_(41277500_?)del - del exons 1_23 - BRCA1_002986 - kConFab variant classification: LGR - - Germline - 4/1658 - 0 - kConFab - Heather Thorne
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_002986 - - - - Germline - 1/1900 cases - 0 - Angela Solano & F Cardoso
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Germline - - - 0 - Arjen Mensenkamp
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Germline - - - 0 - Arjen Mensenkamp
+/. _1_24_ c.(?_-232)_(*1383_?)del r.? p.? - - pathogenic g.(?_41196312)_(41277500_?)del - (?_-48)_(*1_?)del - BRCA1_001598 - - - - Germline - - - 0 - Ans M.W. van den Ouweland
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0 p.0 - - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_24_ c.(?_-232)_(*1383_?)del r.0? p.0? - - pathogenic (dominant) g.(?_41196312)_(41277500_?)del - total deletion - BRCA1_001598 - PubMed: Lecarpentier 2012 - - Germline - - - 0 - Johan den Dunnen
+/. _1_24_ c.(?_-232)_(*1383_?)del r.? p.? - - pathogenic (dominant) g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 deletion includes NBR2 gene Van Der Merwe 2020, submitted - - Germline - 1/744 cases - 0 - Nerina Chrisna van der Merwe
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