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.

60 entries on 1 page. Showing entries 1 - 60.
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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     

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Gender     

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Country     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 Classified by NLB-labs R. vd Luijt - - Germline yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Genevieve Michils
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Hans Gille
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Katrien Storm
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rien Blok
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Kathleen Claes
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 several BRCA1 variants - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Juul Wijnen
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Karin Segers
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A 5428G>T (1770 Gly to Val) - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Kathleen Claes
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A 5428G>T (1770 Gly to Val) - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 21 c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Hans Gille
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, ovarian - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast ? - - - - Belgium - - - - - 1 Katrien Storm
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA SEQ-NG - - cancer, breast ? - - - - Belgium - - - - - 1 Katrien Storm
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Hans Gille
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A - - BRCA1_001008 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A BRCA1(NM_007294.3):c.5309G>T (p.(Gly1770Val), p.G1770V), BRCA1(NM_007294.4):c.5309G>T (p.G1770V), BRCA1(NM_007300.4):c.5372G>T (p.G1791V) - BRCA1_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 21 c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A g.43051086C>A BRCA1(NM_007294.3):c.5309G>T (p.(Gly1770Val), p.G1770V), BRCA1(NM_007294.4):c.5309G>T (p.G1770V), BRCA1(NM_007300.4):c.5372G>T (p.G1791V) - BRCA1_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5309G>T r.(?) p.(Gly1770Val) - Parent #1 - VUS g.41203103C>A g.43051086C>A - - BRCA1_001008 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
+/. - c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A - BRCA1(NM_007294.3):c.5309G>T (p.(Gly1770Val), p.G1770V), BRCA1(NM_007294.4):c.5309G>T (p.G1770V), BRCA1(NM_007300.4):c.5372G>T (p.G1791V) - BRCA1_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5309G>T r.(?) p.(Gly1770Val) - Unknown - pathogenic g.41203103C>A - BRCA1(NM_007294.3):c.5309G>T (p.(Gly1770Val), p.G1770V), BRCA1(NM_007294.4):c.5309G>T (p.G1770V), BRCA1(NM_007300.4):c.5372G>T (p.G1791V) - BRCA1_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5309G>T r.(?) p.(Gly1770Val) - Unknown - VUS g.41203103C>A - BRCA1(NM_007294.3):c.5309G>T (p.(Gly1770Val), p.G1770V), BRCA1(NM_007294.4):c.5309G>T (p.G1770V), BRCA1(NM_007300.4):c.5372G>T (p.G1791V) - BRCA1_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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