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.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - ACMG pathogenic (dominant) g.(?_41196312)_(41197820_41199659)del - del ex24 - BRCA1_001694 - PubMed: Evans 2022 - - Germline - - - 0 - Johan den Dunnen
+/+ 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - kConFab likely pathogenic g.(?_41196312)_(41197820_41199659)del - del exon 24 - BRCA1_001694 - kConFab variant classification: LGR - - Germline - 4/1658 - 0 - kConFab - Heather Thorne
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - - - - Germline - - - 0 - Rob B. van der Luijt
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
?/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - - unclassified g.(?_41196312)_(41197820_41199659)del - (5467+1_5468-1)_(?)del - BRCA1_001694 classified as class 3, 4 or 5 in 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 - 1 case - 0 - UK Variant Sharing Initiative
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