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.

31 entries on 1 page. Showing entries 1 - 31.
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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     

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VIP     

Data_av     

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Panel size     

Owner     
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
-/. 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Marjolijn JL Ligtenberg
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Rob B. van der Luijt
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Annemarie H van der Hout
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
?/? 23i c.5468-10C>A r.(spl?) p.(=) - Unknown - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
?/. 23i c.5468-10C>A r.(?) p.(=) - Parent #1 - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
?/. 23i c.5468-10C>A r.(?) ? - Unknown - NA g.41197829G>T g.43045812G>T IVS23-10C>A - BRCA1_000483 - PubMed: Tommasi 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 23i c.5468-10C>A r.(=) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T - - BRCA1_000483 - shared by Quest Diagnostics - rs8176316 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
?/-? 23i c.5468-10C>A r.(?) p? - Parent #1 - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Unknown - - - - - DNA SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Annemarie H van der Hout
-/- 23i c.5468-10C>A r.(?) p.(=) - Parent #1 - benign g.41197829G>T g.43045812G>T - - BRCA1_000483 Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.01626 (African), derived from 1000 genomes (2012-04-30). ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
-/. 23i c.5468-10C>A r.(?) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - rs8176316 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1301 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 23i c.5468-10C>A r.(?) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - rs8176316 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1427 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 23i c.5468-10C>A r.(?) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - - Germline - - - - - DNA SEQ - - cancer, breast ? - - - - Netherlands - - - - - 1 Rob B. van der Luijt
-/. 23i c.5468-10C>A r.(=) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T BRCA1(NM_007294.3):c.5468-10C>A (p.(=)), BRCA1(NM_007294.4):c.5468-10C>A, BRCA1(NM_007300.4):c.5531-10C>A - BRCA1_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 23i c.5468-10C>A r.(?) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T - - BRCA1_000483 - - - rs8176316 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. - c.5468-10C>A r.(=) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T BRCA1(NM_007294.3):c.5468-10C>A (p.(=)), BRCA1(NM_007294.4):c.5468-10C>A, BRCA1(NM_007300.4):c.5531-10C>A - BRCA1_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5468-10C>A r.(=) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T BRCA1(NM_007294.3):c.5468-10C>A (p.(=)), BRCA1(NM_007294.4):c.5468-10C>A, BRCA1(NM_007300.4):c.5531-10C>A - BRCA1_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5468-10C>A r.(=) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T BRCA1(NM_007294.3):c.5468-10C>A (p.(=)), BRCA1(NM_007294.4):c.5468-10C>A, BRCA1(NM_007300.4):c.5531-10C>A - BRCA1_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.5468-10C>A r.(?) p.(=) - Parent #1 - VUS g.41197829G>T g.43045812G>T - - BRCA1_000483 classified as class 1, 2, 3, 4 or 5 in 3/25800 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 - 3 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 3 UK Variant Sharing Initiative
-/. - c.5468-10C>A r.(?) p.? - Parent #1 - benign g.41197829G>T g.43045812G>T - - BRCA1_000483 - PubMed: Dong 2021 - rs8176316 Germline - 1/11386 controls - - - DNA SEQ, SEQ-NG saliva - Healthy/Control - PubMed: Dong 2021 analysis 11386 control individuals (incl. 9331 females), variant in 1F F - China - - - - - 1 Johan den Dunnen
-/. - c.5468-10C>A r.(=) p.(=) - Unknown - benign g.41197829G>T - BRCA1(NM_007294.3):c.5468-10C>A (p.(=)), BRCA1(NM_007294.4):c.5468-10C>A, BRCA1(NM_007300.4):c.5531-10C>A - BRCA1_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5468-10C>A r.(=) p.(=) - Unknown - benign g.41197829G>T - BRCA1(NM_007294.3):c.5468-10C>A (p.(=)), BRCA1(NM_007294.4):c.5468-10C>A, BRCA1(NM_007300.4):c.5531-10C>A - BRCA1_000483 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 23i c.5468-10C>A r.(?) p.(=) - Unknown - benign g.41197829G>T g.43045812G>T - - BRCA1_000483 - Nodo Argentina Varioma, unpublished - rs8176316 Germline - - - - - DNA SEQ - - BROVCA BR3175 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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