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.

28 entries on 1 page. Showing entries 1 - 28.
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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     

Consanguinity     

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VIP     

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Panel size     

Owner     
+/+ 7 c.427G>T r.(?) p.(Glu143*) - Unknown - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Ans M.W. van den Ouweland
+/+ 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - - - - Unknown - - - - - DNA MLPA, SEQ-NG - - cancer, breast - - - - - Belgium - - - - - 1 Katrien Storm
-/. 7 c.427G>T r.(?) p.Glu143* - Unknown - NA g.41256153C>A g.43104136C>A E143X - BRCA1_000082 Recombination rate; as wildtype control PubMed: Caligo 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.427G>T r.(?) p.(Glu143*) - Unknown kConFab pathogenic g.41256153C>A g.43104136C>A 546 G>T (E143X) - BRCA1_000082 - kConFab variant classification: P - - Germline - 6/1658 - - - DNA SEQ - - cancer, breast - - 6 breast-ovarian cancer families (kConFab) - - Australia;New Zealand - - - - - 6 kConFab - Heather Thorne
+/+ 7 c.427G>T r.(?) p.(Glu143*) - Unknown - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - - - - Germline - - - - - DNA SEQ-NG FFPE normal tissue - cancer, breast - - - F ? Denmark white ? - - - 1 Mads Malik Aagaard Jørgensen
+/+ 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic (dominant) g.41256153C>A g.43104136C>A - - BRCA1_000082 Variant allele predicted to encode truncated non-functional protein ENIGMA classification criteria - - SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.427G>T r.(?) p.(Glu143*) - Unknown - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - - - rs80356991 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR0518 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 7 c.427G>T r.(?) p.(Glu143*) - Unknown - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - - - rs80356991 Germline - 2/1900 cases - - - DNA SEQ - - cancer, breast BR1249 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 7 c.427G>T r.(?) p.(Glu143Ter) - Unknown - pathogenic g.41256153C>A g.43104136C>A BRCA1(NM_007294.3):c.427G>T (p.E143*), BRCA1(NM_007294.4):c.427G>T (p.E143*) - BRCA1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.427G>T r.(?) p.(Glu143Ter) - Unknown - pathogenic g.41256153C>A g.43104136C>A BRCA1(NM_007294.3):c.427G>T (p.E143*), BRCA1(NM_007294.4):c.427G>T (p.E143*) - BRCA1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.427G>T r.(?) p.(Glu143*) - Unknown - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Arai 2018, Journal: Arai 2018 - - Germline - - - - - DNA SEQ-NG - - BROVCA 29176636-Pat PubMed: Arai 2018, Journal: Arai 2018 analysis 860 breast/ovarian cancer pedigrees - - Japan - - - - - 1 Johan den Dunnen
+/. 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 20 families F - Denmark white - - - - 20 Johan den Dunnen
+/. 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France unknown - - - - 2 Johan den Dunnen
+/. 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Germany unknown - - - - 2 Johan den Dunnen
+/. 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Ireland white - - - - 1 Johan den Dunnen
+/. 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United Kingdom (Great Britain) unknown - - - - 1 Johan den Dunnen
+/. 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 30 families F - United Kingdom (Great Britain) white - - - - 30 Johan den Dunnen
+/. 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - United States Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States unknown - - - - 3 Johan den Dunnen
+/. 7 c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 24 families F - United States white - - - - 24 Johan den Dunnen
+/. - c.427G>T r.(?) p.(Glu143*) - Parent #1 - pathogenic (dominant) g.41256153C>A g.43104136C>A - - BRCA1_000082 - 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.427G>T r.(?) p.(Glu143*) - Parent #1 - VUS g.41256153C>A g.43104136C>A - - BRCA1_000082 classified as class 3, 4 or 5 in 44/12850 targeted tests and 19/25800 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 - 63 cases - - - DNA SEQ - - BROVCA - UK Variant Sharing Initiative analysis breast/ovarian cancer cases - - United Kingdom (Great Britain) - - - - - 63 UK Variant Sharing Initiative
+/. - c.427G>T r.(?) p.(Glu143*) - Unknown - pathogenic g.41256153C>A - - - BRCA1_000082 - - - - Germline - - - - - DNA ? - - MINAS - - - F no United Kingdom (Great Britain) - - - - - 1 James Whitworth
?/. - c.427G>T r.(?) p.(Glu143*) - Parent #1 - NA g.41256153C>A - chr17_41256153_C_A - BRCA1_000082 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 - 8/60466 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 - 8 BRIDGES consortium
?/. - c.427G>T r.(?) p.(Glu143*) - Parent #1 - NA g.41256153C>A - chr17_41256153_C_A - BRCA1_000082 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 - 7/53461 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 - 7 BRIDGES consortium
+/. - c.427G>T r.(?) p.(Glu143Ter) - Unknown - pathogenic g.41256153C>A - BRCA1(NM_007294.3):c.427G>T (p.E143*), BRCA1(NM_007294.4):c.427G>T (p.E143*) - BRCA1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.427G>T r.(?) p.(Glu143Ter) - Parent #1 ACMG pathogenic (dominant) g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat31 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.427G>T r.(?) p.(Glu143Ter) - Parent #1 ACMG pathogenic (dominant) g.41256153C>A g.43104136C>A - - BRCA1_000082 - PubMed: Evans 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast Pat74 PubMed: Evans 2022 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
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