Full data view for gene BRCA1

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     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 ACMG pathogenic (dominant) g.(?_41196312)_(41197820_41199659)del - del ex24 - BRCA1_001694 - PubMed: Evans 2022 - - Germline - - - 0 - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat45 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
+/+ 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Unknown kConFab likely pathogenic g.(?_41196312)_(41197820_41199659)del - del exon 24 - BRCA1_001694 - kConFab variant classification: LGR - - Germline - 4/1658 - 0 - DNA SEQ - - cancer, breast - - 4 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - 0 - - 4 kConFab - Heather Thorne
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Unknown - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - - - - Germline - - - 0 - DNA MLPA - - cancer, breast ? - - - - Netherlands - - 0 - - 1 Rob B. van der Luijt
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 2 families F - Austria white - 0 - - 2 Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Germany white - 0 - - 1 Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 4 families F - Germany unknown - 0 - - 4 Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 2 families F - Italy white - 0 - - 2 Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 3 families F - Spain white - 0 - - 3 Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Sweden white - 0 - - 1 Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 5 families F - United Kingdom (Great Britain) white - 0 - - 5 Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - United States Hispanic - 0 - - 1 Johan den Dunnen
+/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - pathogenic g.(?_41196312)_(41197820_41199659)del - c.5468-?_5592+?del - BRCA1_001694 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 2 families F - United States white - 0 - - 2 Johan den Dunnen
?/. 23i_24_ c.(5467+1_5468-1)_*1383{0} r.? p.? - Parent #1 - 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 - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - 0 - - 1 UK Variant Sharing Initiative
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