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.

49 entries on 1 page. Showing entries 1 - 49.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

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Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Methylation     

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Disease     

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+/+ 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Frans BL Hogervorst
+/+ 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Juul Wijnen
+/+ 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - - Unknown ? - - - - DNA SEQ ? - cancer, breast - - - - ? Netherlands - - - - - 1 Peter Devilee
-/. 5 c.211A>G r.(?) p.Arg71Gly - Unknown - NA g.41258474T>C g.43106457T>C R71G - BRCA1_000059 E3 Ub-ligase activity assay BRCA1/RING-BARD1; as wildtype control PubMed: Morris 2006 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.211A>G r.(?) p.Arg71Gly - Unknown - NA g.41258474T>C g.43106457T>C R71G - BRCA1_000059 evolutionary conservation analysis; predicted deleterious PubMed: Pettigrew 2005 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.211A>G r.(?) p.Arg71Gly - Unknown - NA g.41258474T>C g.43106457T>C R71G - BRCA1_000059 Homology directed recombination; no impact on protein function PubMed: Ransburgh 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. 5 c.211A>G r.(?) p.Arg71Gly - Unknown - NA g.41258474T>C g.43106457T>C R71G - BRCA1_000059 protein binding ability BARD1; no impact on protein function PubMed: Ransburgh 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.211A>G r.(?) p.Arg71Gly - Unknown - NA g.41258474T>C g.43106457T>C R71G - BRCA1_000059 Radiation sensitivity; as wildtype control PubMed: Ruffner 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.211A>G r.(?) p.Arg71Gly - Unknown - NA g.41258474T>C g.43106457T>C R71G - BRCA1_000059 E3 Ub-ligase activity assay; as wildtype control PubMed: Ruffner 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.211A>G r.spl p.Arg71Gly - Unknown - NA g.41258474T>C g.43106457T>C R71G - BRCA1_000059 cDNA analysis; predicted deleterious, increased in-frame skipping of exon 5 and out-of-frame skipping of the last 22 nucleotides of exon 5 PubMed: Vega 2001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown ENIGMA pathogenic g.41258474T>C g.43106457T>C R71G - BRCA1_000059 - - - rs80357382 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0715 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR1431 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0373 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0438 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0725 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0809 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0899 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0977 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR1265 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR2146 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 12/1900 cases - - - DNA SEQ - - cancer, breast BR0384 - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - - Germline - - - - - DNA MLPA, SEQ - - cancer, breast - - - - - Netherlands - - - - - 1 Arjen Mensenkamp
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C BRCA1(NM_007294.3):c.211A>G (p.R71G) - BRCA1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C BRCA1(NM_007294.3):c.211A>G (p.R71G) - BRCA1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Brazil white - - - - 1 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - France white - - - - 2 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - France unknown - - - - 3 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 1 family F - Germany white - - - - 1 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - 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
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - Mexico Hispanic - - - - 2 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - Portugal white - - - - 3 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 78 families F - Spain white - - - - 78 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - 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) white - - - - 1 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - 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
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 2 families F - United States unknown - - - - 2 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 3 families F - United States white - - - - 3 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Rebbeck 2018, Journal: Rebbeck 2018 - - Germline - - - - - DNA SEQ - - cancer, breast CIMBA-Fam? PubMed: Rebbeck 2018, Journal: Rebbeck 2018 17 families F - United States Hispanic - - - - 17 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 15/2300 cases - - - DNA SEQ - - SLOS - - - F ? Germany white - - - - 1 Division of Human Genetics, Innsbruck
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 15/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 15/2300 cases - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - - - - - DNA SEQ - - cancer, breast - - - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. - c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic (dominant) g.41258474T>C g.43106457T>C - - BRCA1_000059 - PubMed: Lecarpentier 2012 - - Germline - - - - - DNA SEQ - - cancer, breast - PubMed: Lecarpentier 2012 1 families with BRCA1/BRCA2 variant carriers F - France - - - - - 1 Johan den Dunnen
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel cancer, breast - - - - - Argentina - - - - - 1 Maximiliano Zeballos
?/. - c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - VUS g.41258474T>C g.43106457T>C - - BRCA1_000059 classified as class 3, 4 or 5 in 2/12850 targeted tests and 1/25800 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.211A>G r.(?) p.(Arg71Gly) - Parent #1 - pathogenic (dominant) g.41258474T>C g.43106457T>C - - BRCA1_000059 - - - rs80357382 Germline - 1/22 cases - - - DNA SEQ-NG-I - gene panel ATM, AXIN2, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, MLH1, MRE11A, MSH2, MSH6, MUTYH, NF1, PALB2, PMS2, PTEN, RAD51, RAD51C, RAD51D, STK11, TP53 cancer, breast P-89 - - F - Brazil - - - - - 1 CEGH-CEL
?/. - c.211A>G r.(?) p.(Arg71Gly) - Parent #1 - NA g.41258474T>C - chr17_41258474_T_C - BRCA1_000059 not in 53461 controls; 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 - 7/60466 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 - 7 BRIDGES consortium
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic (dominant) g.41258474T>C g.43106457T>C - - BRCA1_000059 - Nodo Argentina Varioma, unpublished - rs80357382 Germline - - - - - DNA SEQ - - BROVCA BR2967 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
+/. 5 c.211A>G r.(?) p.(Arg71Gly) - Unknown - pathogenic (dominant) g.41258474T>C g.43106457T>C - - BRCA1_000059 - Nodo Argentina Varioma, unpublished - rs80357382 Germline - - - - - DNA SEQ - - BROVCA BR3149 Nodo Argentina Varioma, unpublished - - - Argentina - - - - - 1 CEMIC - Genotyping - Angela Solano
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