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.

34 entries on 1 page. Showing entries 1 - 34.
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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     

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Data_av     

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Panel size     

Owner     
-/- 9 c.591C>T r.(=) p.(=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs1799965 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
-/- 9 c.591C>T r.(?) p.(Cys197=) - Parent #1 - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 9 c.591C>T r.(?) p.(Cys197=) - Parent #1 - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/- 9 c.591C>T r.(?) p.(Cys197=) - Parent #1 - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Xavier P. Pepermans
-/. 9 c.591C>T r.(?) p.(Cys197=) - Parent #1 - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
-/. 9 c.591C>T r.spl p.Cys197Cys - Unknown - NA g.41249263G>A g.43097246G>A 710C/T (C197C) - BRCA1_000096 mRNA analysis; as wildtype control PubMed: Dosil 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.591C>T r.(?) p.Cys197Cys - Unknown - NA g.41249263G>A g.43097246G>A 710C/T (C197C) - BRCA1_000096 - PubMed: Bergthorsson 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.591C>T r.(?) p.Cys197Cys - Unknown - NA g.41249263G>A g.43097246G>A C197C - BRCA1_000096 - PubMed: Diez 2003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.591C>T r.(?) p.Cys197Cys - Unknown - NA g.41249263G>A g.43097246G>A C197C - BRCA1_000096 No aberration compared to control PubMed: McKean-Cowdin 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.591C>T r.= p.= - Unknown - NA g.41249263G>A g.43097246G>A c.591C>T - BRCA1_000096 splicing reporter minigene; no splicing defect PubMed: Théry 2011 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.591C>T r.(=) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - shared by Quest Diagnostics - rs1799965 Unknown - - - - - DNA SEQ - - - - - individual screened for BRCA1/2 variants - - - - - - - - 1 Quest Diagnostics
-/- 9 c.591C>T r.(=) p.(=) - Unknown kConFab benign g.41249263G>A g.43097246G>A 710 C>T (C197C) - BRCA1_000096 - kConFab variant classification: PM - - Germline - 3/1658 - - - DNA SEQ - - cancer, breast - - 3 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 3 kConFab - Heather Thorne
-/- 9 c.591C>T r.(?) p.(Cys197=) - Unknown ENIGMA benign g.41249263G>A g.43097246G>A C197C - BRCA1_000096 - - - rs1799965 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/- 9 c.591C>T r.(?) p.(Cys197=) - Unknown ENIGMA benign g.41249263G>A g.43097246G>A C197C - BRCA1_000096 - - - rs1799965 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - rs1799965 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR0443 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - rs1799965 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR1408 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - rs1799965 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0778 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - rs1799965 Germline - 4/1900 cases - - - DNA SEQ - - cancer, breast BR1092 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - rs1799965 Germline - 3/1900 cases - - - DNA SEQ - - cancer, breast BR0670 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9 c.591C>T r.[591c>u, 442_444del, 548_593del] p.[=,Gln148del, Gly183Valfs*36] - Parent #1 - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 mRNA r.548_593del present in low concentration PubMed: Santos 2014 - - Germline no - - - - DNA, RNA RT-PCR, SEQ - - BROVCA 24607278-Fam PubMed: Santos 2014 3 families F - Portugal - - - - - 3 Johan den Dunnen
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A BRCA1(NM_007294.3):c.591C>T (p.C197=, p.(Cys197=), p.Cys197=), BRCA1(NM_007294.4):c.591C>T (p.C197=) - BRCA1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A BRCA1(NM_007294.3):c.591C>T (p.C197=, p.(Cys197=), p.Cys197=), BRCA1(NM_007294.4):c.591C>T (p.C197=) - BRCA1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A BRCA1(NM_007294.3):c.591C>T (p.C197=, p.(Cys197=), p.Cys197=), BRCA1(NM_007294.4):c.591C>T (p.C197=) - BRCA1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A BRCA1(NM_007294.3):c.591C>T (p.C197=, p.(Cys197=), p.Cys197=), BRCA1(NM_007294.4):c.591C>T (p.C197=) - BRCA1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A BRCA1(NM_007294.3):c.591C>T (p.C197=, p.(Cys197=), p.Cys197=), BRCA1(NM_007294.4):c.591C>T (p.C197=) - BRCA1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - - - rs1799965 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.591C>T r.(?) p.(=) - Parent #1 - VUS g.41249263G>A g.43097246G>A - - BRCA1_000096 classified as class 1, 2, 3, 4 or 5 in 13/25800 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 - 13 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 13 UK Variant Sharing Initiative
-/. - c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A - BRCA1(NM_007294.3):c.591C>T (p.C197=, p.(Cys197=), p.Cys197=), BRCA1(NM_007294.4):c.591C>T (p.C197=) - BRCA1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A - BRCA1(NM_007294.3):c.591C>T (p.C197=, p.(Cys197=), p.Cys197=), BRCA1(NM_007294.4):c.591C>T (p.C197=) - BRCA1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - Nodo Argentina Varioma, unpublished - rs1799965 Germline - - - - - DNA SEQ - - BROVCA BR2977 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
-/. 9 c.591C>T r.(?) p.(Cys197=) - Unknown - benign g.41249263G>A g.43097246G>A - - BRCA1_000096 - Nodo Argentina Varioma, unpublished - rs1799965 Germline - - - - - DNA SEQ - - BROVCA BR3151 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
?/. - c.591C>T r.[591c>u,548_593del,548_670del] p.[Cys197Cys,Gly183Cysfs*16,Gly183_Lys223del] - Parent #1 - VUS g.41249263G>A g.43097246G>A 710C>T,C197C - BRCA1_000096 - PubMed: Wappenschmidt 2012 - - Germline - - - - - DNA SEQ - - BROVCA 09_1472#001 PubMed: Wappenschmidt 2012 family F - - Europe - - - - 3 Johan den Dunnen
?/. - c.591C>T r.[591c>u,548_593del,548_670del] p.[Cys197Cys,Gly183Cysfs*16,Gly183_Lys223del] - Parent #1 - VUS g.41249263G>A g.43097246G>A 710C>T,C197C - BRCA1_000096 - PubMed: Wappenschmidt 2012 - - Germline - - - - - DNA SEQ - - BROVCA 09_2106#001 PubMed: Wappenschmidt 2012 family F - - Europe - - - - 7 Johan den Dunnen
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