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.

6 entries on 1 page. Showing entries 1 - 6.
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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_23i c.(?_-232)_(5467+1_5468-1)del r.0? p.0? - - pathogenic g.(41197820_41199659)_(41277500_?)del - - - BRCA1_001214 - - - - Unknown ? - - - - Genevieve Michils
+/+ _1_23i c.(?_-232)_(5467+1_5468-1)del r.0? p.0? - - pathogenic g.(41197820_41199659)_(41277500_?)del - - - BRCA1_001214 - - - - Unknown ? - - - - Juul Wijnen
+/. _1_23i c.(?_-232)_(5467+1_5468-1)del r.0? p.0? - - pathogenic g.(41197820_41199659)_(41277500_?)del - c.-232-?_5467+?del - BRCA1_001214 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_23i c.(?_-232)_(5467+1_5468-1)del r.0? p.0? - - pathogenic g.(41197820_41199659)_(41277500_?)del - c.-232-?_5467+?del - BRCA1_001214 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_23i c.(?_-232)_(5467+1_5468-1)del r.0? p.0? - - pathogenic (dominant) g.(41197820_41199659)_(41277500_?)del - 0_5407 - BRCA1_001214 - PubMed: Lecarpentier 2012 - - Germline - - - 0 - Johan den Dunnen
?/. _1_23i c.(?_-232)_(5467+1_5468-1)del r.0? p.0? - - unclassified g.(41197820_41199659)_(41277500_?)del - - - BRCA1_001214 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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