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.

17 entries on 1 page. Showing entries 1 - 17.
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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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Owner     
+/+ 11 c.2603C>G r.(?) p.(Ser868*) - Unknown - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium - - - - - 1 Erik Teugels
+/+ 11 c.2603C>G r.(?) p.(Ser868*) - Unknown - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Belgium white - - - - 1 Kathleen Claes
+/+ 11 c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Erik Teugels
+/+ 11 c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Pascale Hilbert
+/+ 11 c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - - - - Unknown - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Belgium - - - - - 1 Cindy Badoer
+/+ 11 c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic (dominant) g.41244945G>C g.43092928G>C - - BRCA1_001511 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11 c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - France unknown - - - - 1 Johan den Dunnen
+/. 11 c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Italy white - - - - 1 Johan den Dunnen
+/. 11 c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Pakistan Asian - - - - 1 Johan den Dunnen
+/. 11 c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United Kingdom (Great Britain) white - - - - 2 Johan den Dunnen
+/. 11 c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - 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.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic g.41244945G>C g.43092928G>C - - BRCA1_001511 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 7 families F - United States white - - - - 7 Johan den Dunnen
+/. - c.2603C>G r.(?) p.(Ser868*) - Parent #1 - pathogenic (dominant) g.41244945G>C g.43092928G>C - - BRCA1_001511 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
+/. - c.2603C>G r.(?) p.(Ser868Ter) - Unknown - pathogenic g.41244945G>C g.43092928G>C BRCA1(NM_007294.4):c.2603C>G (p.S868*) - BRCA1_001511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2603C>G r.(?) p.(Ser868*) - Parent #1 - NA g.41244945G>C - chr17_41244945_G_C - BRCA1_001511 not in 60466 cases; 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.2603C>G r.(?) p.(Ser868Ter) - Unknown - pathogenic g.41244945G>C - BRCA1(NM_007294.4):c.2603C>G (p.S868*) - BRCA1_001511 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2603C>G r.(?) p.(Ser868*) - Parent #1 - VUS g.41244945G>C g.43092928G>C - - BRCA1_001511 classified as class 3, 4 or 5 in 7/12850 targeted tests and 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 - 10 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 10 UK Variant Sharing Initiative
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