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.

129 entries on 2 pages. Showing entries 1 - 100.
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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     
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Genevieve Michils
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 11 c.2722G>T r.(?) p.(Glu908*) - Parent #1 - pathogenic (dominant) g.41244826C>A g.43092809C>A - - BRCA1_001119 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - rs80356978 Germline - 1/1900 cases - - - DNA SEQ - - cancer, breast BR1279 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/. 11 c.2722G>T r.(?) p.(Glu908*) - Unknown - pathogenic g.41244826C>A g.43092809C>A - - BRCA1_001119 - - - - Germline - - - - - DNA MIPsm, SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
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