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.

26 entries on 1 page. Showing entries 1 - 26.
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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     
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.4987_5074del p.Met1663fs - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.(del) p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - deletion exon 17 - BRCA1_001113 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.(del) p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - deletion exon 17 - BRCA1_001113 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.(del) p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - deletion exon 17 - BRCA1_001113 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.(?) p.? - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - del exon 17 - BRCA1_001113 - - - - Unknown - - - - - DNA MLPA - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.spl? p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - - - BRCA1_001113 - - - - Unknown - - - - - DNA MLPA - - cancer, ovarian - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.(Val1665Serfs*8) - Unknown - pathogenic g.(41215969_41219624)_(41219713_41222944)del - c.4987-?_5074+?del - BRCA1_001113 - - - - Germline - - - - - DNA MLPA - - cancer, ovarian ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - c.4987-?_5074+?del - BRCA1_001113 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Denmark white - - - - 2 Johan den Dunnen
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - c.4987-?_5074+?del - BRCA1_001113 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France white - - - - 1 Johan den Dunnen
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - c.4987-?_5074+?del - BRCA1_001113 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France unknown - - - - 1 Johan den Dunnen
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - c.4987-?_5074+?del - BRCA1_001113 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany white - - - - 1 Johan den Dunnen
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - c.4987-?_5074+?del - BRCA1_001113 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 4 families F - Germany unknown - - - - 4 Johan den Dunnen
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - c.4987-?_5074+?del - BRCA1_001113 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Italy white - - - - 2 Johan den Dunnen
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - c.4987-?_5074+?del - BRCA1_001113 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 5 families F - United Kingdom (Great Britain) white - - - - 5 Johan den Dunnen
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Parent #1 - pathogenic g.(41215969_41219624)_(41219713_41222944)del - c.4987-?_5074+?del - BRCA1_001113 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 6 families F - United States white - - - - 6 Johan den Dunnen
+/. 16i_17i c.(4986+1_4987-1)_(5074+1_5075-1)del r.? p.? - Unknown - pathogenic (dominant) g.(41215969_41219624)_(41219713_41222944)del - Exon 17 deletion - BRCA1_001113 - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017 - - Germline - 1 families/patients - - - DNA ?, SEQ - - BROVCA - Journal: Gao 2020 as reported in: PubMed: Wu 2017, Journal: Wu 2017 breast/ovarian cancer families/patients - - China - - - - - 1 Xianqi Gao
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