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.

44 entries on 1 page. Showing entries 1 - 44.
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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     

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VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 10 c.641A>G r.(=) p.(Asp214Gly) - Unknown - benign g.41247892T>C g.43095875T>C - - BRCA1_001629 - Dutch/Belgium working group Breast Cancer DNA Diagnostics - rs55680408 Germline no - - - - DNA SEQ ? - cancer, breast - Dutch/Belgium working group Breast Cancer DNA Diagnostics - - - Netherlands - - - - - 1 Maaike Vreeswijk
?/. 10 c.641A>G r.(?) p.(Asp214Gly) - Unknown - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - P14-3411 - 1 Arjen Mensenkamp
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 kConFab VUS g.41247892T>C g.43095875T>C 760 A>G (D214G) - BRCA1_001629 - kConFab variant classification: UV - - Germline - 1/1658 - - - DNA SEQ - - cancer, breast - - 1 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 1 kConFab - Heather Thorne
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C 760A>G - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA ? - - cancer, breast French Consortium-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 3 unrelated cases - - France - - - - - 3 UMD
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ ? - cancer, breast Leiden-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - ? Netherlands - - - - - 1 Juul Wijnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Ambry Genetics-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Embrace-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Embrace-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Germany - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Germany - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Germany - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Germany - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA GC-HBOC-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Germany - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA New Zealand Familial Breast Cancer Study-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - New Zealand - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Northshore-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Northshore-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Northshore-ENIGMA/CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA Adult Genetics Unit, South Australia-ENIGMA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Australia - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA BCFR-AU-CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 familial - - Australia - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA NIH-CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - United States - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - BROVCA MUV-CIMBA PubMed: de la Hoya 2016, Journal: de la Hoya 2016 no family information - - Austria - - - - - 1 Johan den Dunnen
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 - PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - ? Ambry Genetics PubMed: de la Hoya 2016, Journal: de la Hoya 2016 unavailability of relevant clinical information - - - - - - - - 13 Johan den Dunnen
+/. 10 c.641A>G r.[=, 594_670del] p.[=, Val199fs] - Unknown - NA g.41247892T>C g.43095875T>C - - BRCA1_001629 minigene splice expression cloning ex10 and ex8-ex12 in several cell lines PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/? 10 c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C 760 A>G (D214G) - BRCA1_001629 probably identical to genomic variant #0000169071 PubMed: de la Hoya 2016, Journal: de la Hoya 2016 - - Germline - - - - - DNA SEQ - - cancer, breast 27008870-? PubMed: de la Hoya 2016, Journal: de la Hoya 2016 breast-ovarian cancer family (kConFab); probably identical to individual #00045963 - - Australia;New Zealand - - - - - 1 Johan den Dunnen
-/. 10 c.641A>G r.(?) p.(Asp214Gly) - Unknown - benign g.41247892T>C g.43095875T>C - - BRCA1_001629 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
-/. - c.641A>G r.(?) p.(Asp214Gly) - Unknown - benign g.41247892T>C g.43095875T>C BRCA1(NM_007294.3):c.641A>G (p.D214G, p.(Asp214Gly)), BRCA1(NM_007294.4):c.641A>G (p.D214G) - BRCA1_001629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641A>G r.(?) p.(Asp214Gly) - Unknown - VUS g.41247892T>C g.43095875T>C BRCA1(NM_007294.3):c.641A>G (p.D214G, p.(Asp214Gly)), BRCA1(NM_007294.4):c.641A>G (p.D214G) - BRCA1_001629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.641A>G r.(?) p.(Asp214Gly) - Unknown - benign g.41247892T>C g.43095875T>C BRCA1(NM_007294.3):c.641A>G (p.D214G, p.(Asp214Gly)), BRCA1(NM_007294.4):c.641A>G (p.D214G) - BRCA1_001629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - VUS g.41247892T>C g.43095875T>C - - BRCA1_001629 classified as class 3, 4 or 5 in 4/25800 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 - 4 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 4 UK Variant Sharing Initiative
?/. - c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - NA g.41247892T>C - chr17_41247892_T_C - BRCA1_001629 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - DNA SEQ-NG - 34-gene panel cancer, breast - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 60466 cases (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
?/. - c.641A>G r.(?) p.(Asp214Gly) - Parent #1 - NA g.41247892T>C - chr17_41247892_T_C - BRCA1_001629 the study was not designed to clinically classify individual variants but performed burden-type association analyses, grouping certain variant types PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - DNA SEQ-NG - 34-gene panel Healthy/Control - PubMed: Dorling 2021, Journal: Dorling 2021 analysis 53461 controls (BRIDGES) - - - - - - bcac.ccge.medschl.cam.ac.uk/contact - 1 BRIDGES consortium
-/. - c.641A>G r.(?) p.(Asp214Gly) - Unknown - benign g.41247892T>C - BRCA1(NM_007294.3):c.641A>G (p.D214G, p.(Asp214Gly)), BRCA1(NM_007294.4):c.641A>G (p.D214G) - BRCA1_001629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.641A>G r.(?) p.(Asp214Gly) - Unknown - likely benign g.41247892T>C - BRCA1(NM_007294.3):c.641A>G (p.D214G, p.(Asp214Gly)), BRCA1(NM_007294.4):c.641A>G (p.D214G) - BRCA1_001629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.641A>G r.(?) p.(Asp214Gly) - Unknown - benign g.41247892T>C - BRCA1(NM_007294.3):c.641A>G (p.D214G, p.(Asp214Gly)), BRCA1(NM_007294.4):c.641A>G (p.D214G) - BRCA1_001629 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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