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.

104 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.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Gln1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Arjen Mensenkamp
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A 3867G>T (1250 Glu to Stop) - BRCA1_001240 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Rien Blok
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Both (homozygous) - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown - - - - - DNA SEQ-NG - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P12-4635 - 1 Arjen Mensenkamp
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
+/+ 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic (dominant) g.41243800C>A g.43091783C>A - - BRCA1_001240 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Germline - - - - - DNA SEQ - - cancer, ovarian ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Unknown - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 11 c.3748G>T r.(?) p.(Glu1250Ter) - Unknown - pathogenic g.41243800C>A g.43091783C>A BRCA1(NM_007294.3):c.3748G>T (p.E1250*, p.(Glu1250Ter)), BRCA1(NM_007294.4):c.3748G>T (p.E1250*), BRCA1(NM_007300.4):c.3748G>T (p.E1250*) - BRCA1_001240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3748G>T r.(?) p.(Glu1250Ter) - Unknown - pathogenic g.41243800C>A g.43091783C>A BRCA1(NM_007294.3):c.3748G>T (p.E1250*, p.(Glu1250Ter)), BRCA1(NM_007294.4):c.3748G>T (p.E1250*), BRCA1(NM_007300.4):c.3748G>T (p.E1250*) - BRCA1_001240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3748G>T r.(?) p.(Glu1250Ter) - Unknown - pathogenic g.41243800C>A g.43091783C>A BRCA1(NM_007294.3):c.3748G>T (p.E1250*, p.(Glu1250Ter)), BRCA1(NM_007294.4):c.3748G>T (p.E1250*), BRCA1(NM_007300.4):c.3748G>T (p.E1250*) - BRCA1_001240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3748G>T r.(?) p.(Glu1250Ter) - Unknown - pathogenic g.41243800C>A g.43091783C>A BRCA1(NM_007294.3):c.3748G>T (p.E1250*, p.(Glu1250Ter)), BRCA1(NM_007294.4):c.3748G>T (p.E1250*), BRCA1(NM_007300.4):c.3748G>T (p.E1250*) - BRCA1_001240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Canada white - - - - 2 Johan den Dunnen
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France African American - - - - 1 Johan den Dunnen
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France white - - - - 2 Johan den Dunnen
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France unknown - - - - 3 Johan den Dunnen
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Italy white - - - - 3 Johan den Dunnen
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Sweden white - - - - 1 Johan den Dunnen
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Hispanic - - - - 1 Johan den Dunnen
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States unknown - - - - 1 Johan den Dunnen
+/. 11 c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 36 families F - United States white - - - - 36 Johan den Dunnen
+/. - c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - pathogenic (dominant) g.41243800C>A g.43091783C>A - - BRCA1_001240 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 2 families with BRCA1/BRCA2 variant carriers F - France - - - - - 2 Johan den Dunnen
+/. - c.3748G>T r.(?) p.(Glu1250Ter) - Unknown - pathogenic g.41243800C>A g.43091783C>A BRCA1(NM_007294.3):c.3748G>T (p.E1250*, p.(Glu1250Ter)), BRCA1(NM_007294.4):c.3748G>T (p.E1250*), BRCA1(NM_007300.4):c.3748G>T (p.E1250*) - BRCA1_001240 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3748G>T r.(?) p.(Glu1250*) - Parent #1 - VUS g.41243800C>A g.43091783C>A - - BRCA1_001240 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 - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 1 UK Variant Sharing Initiative
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