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.

30 entries on 1 page. Showing entries 1 - 30.
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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     
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - 0 - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Karin Segers
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Karin Segers
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Karin Segers
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Karin Segers
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Karin Segers
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Karin Segers
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Pascale Hilbert
+/+ _1_24_ c.-232_*1383{0} r.0? p.0? - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - deletion whole BRCA1 gene - BRCA1_001598 - - - - Unknown - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - 0 - - 1 Pascale Hilbert
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Germline - - - 0 - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - 0 - - 1 Arjen Mensenkamp
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 - - - - Germline - - - 0 - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Arjen Mensenkamp
+/. _1_24_ c.-232_*1383{0} r.? p.? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - (?_-48)_(*1_?)del - BRCA1_001598 - - - - Germline - - - 0 - DNA SEQ - - cancer, breast - - - - - Netherlands - - 0 - - 1 Ans M.W. van den Ouweland
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Denmark white - 0 - - 1 Johan den Dunnen
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - France white - 0 - - 1 Johan den Dunnen
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - France unknown - 0 - - 1 Johan den Dunnen
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 3 families F - Germany unknown - 0 - - 3 Johan den Dunnen
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 2 families F - Korea Asian - 0 - - 2 Johan den Dunnen
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 5 families F - Spain white - 0 - - 5 Johan den Dunnen
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 1 family F - Sweden white - 0 - - 1 Johan den Dunnen
+/. _1_24_ c.-232_*1383{0} r.0 p.0 - Parent #1 - pathogenic g.(?_41196312)_(41277500_?)del - c.-232-?_5592+?del - BRCA1_001598 - Journal: Rebbeck 2018 - - Germline - - - 0 - DNA SEQ - - cancer, breast CIMBA-Fam? Journal: Rebbeck 2018 4 families F - United States Hispanic - 0 - - 4 Johan den Dunnen
+/. _1_24_ c.-232_*1383{0} r.0? p.0? - Parent #1 - pathogenic (dominant) g.(?_41196312)_(41277500_?)del - total deletion - BRCA1_001598 - PubMed: Lecarpentier 2012 - - Germline - - - 0 - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - 0 - - 2 Johan den Dunnen
+/. _1_24_ c.-232_*1383{0} r.? p.? - Parent #1 - pathogenic (dominant) g.(?_41196312)_(41277500_?)del - - - BRCA1_001598 deletion includes NBR2 gene Van Der Merwe 2020, submitted - - Germline - 1/744 cases - 0 - DNA MLPA - - cancer, breast 1428/16 Van Der Merwe 2020, submitted analysis 744 individuals with breast/ovarian cancer - - South Africa coloured - 0 - - 1 Nerina Chrisna van der Merwe
+/. _1_24_ c.-232_*1383{0} r.0? p.0? - Unknown - pathogenic g.(?_41196312)_(41277500_?)del - del whole gene - BRCA1_001598 - PubMed: Moreno-Cabrera 2021 - - Germline/De novo (untested) - - - 0 - DNA MLPA, SEQ-NG - - cancer S21 PubMed: Moreno-Cabrera 2021 - - - Spain - - 0 - - 1 Johan den Dunnen
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