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.

29 entries on 1 page. Showing entries 1 - 29.
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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_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - -?_80+?del - BRCA1_001184 - - - - Unknown ? - - 0 - Genevieve Michils
+/+ _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - - - - Unknown - - - 0 - Rien Blok
+/+ _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - deletion exons 1-2 - BRCA1_001184 - - - - Unknown - - - 0 - Juul Wijnen
+/+ _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - -?_80+?del - BRCA1_001184 - - - - Unknown - - - 0 - Kathleen Claes
+/+ _1_2i c.-232_(80+1_81-1){0} r.spl? p.? - kConFab pathogenic g.(41267797_41276033)_(41277500_?)del - del exons 1_2 - BRCA1_001184 - kConFab variant classification: P - - Germline - 2/1658 - 0 - kConFab - Heather Thorne
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - del exons 1 & 2 - BRCA1_003033 - - - - Germline - - - 0 - Florentia Fostira
+/. _1_2i c.-232_(80+1_81-1){0} r.? p.? - - pathogenic g.(41267797_41276033)_(41277500_?)del - - - BRCA1_003033 - - - - Germline - - - 0 - Arjen Mensenkamp
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.-232-?_80+?del - BRCA1_001184 - Journal: Rebbeck 2018 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - ex1A-2 del - BRCA1_001184 - PubMed: Al-Mulla 2009 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - ex1-2 del - BRCA1_001184 - PubMed: Stegel 2011 - - Germline - - - 0 - Johan den Dunnen
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic g.(41267797_41276033)_(41277500_?)del - c.(?_-4600)_(249+1_250-1)del - BRCA1_001184 - PubMed: Fostira 2020 - - Germline - - - 0 - Florentia Fostira
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - 0_80 - BRCA1_001184 - PubMed: Lecarpentier 2012 - - Germline - - - 0 - Johan den Dunnen
?/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - unclassified g.(41267797_41276033)_(41277500_?)del - - - BRCA1_001184 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
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - LRG_292:g.(?_ 93968)del - BRCA1_001184 - Van Der Merwe 2020, submitted - - Germline - 1/744 cases - 0 - Nerina Chrisna van der Merwe
+/. _1_2i c.-232_(80+1_81-1){0} r.0? p.0? - - pathogenic (dominant) g.(41267797_41276033)_(41277500_?)del - LRG_292:g.(?_ 93968)del - BRCA1_001184 - Van Der Merwe 2020, submitted - - Germline - 1/744 cases - 0 - Nerina Chrisna van der Merwe
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