Full data view for gene BRCA1

Information The variants shown are described using the transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Parent #1 g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 22-sep-2016 Alexander Fleming - - - Portuguese - - - 1 Luisina Bruno-Instituto Fleming
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Parent #1 g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 23-jan-2017 Domeq&, Lafage - - Breast cancer Spanish-Italian - - Breast cancer 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Parent #1 g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 6-mar-2017 Domeq&, Lafage - - Prostate cancer Argentinian-Irish - - Breast cancer, Prostate cancer 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Parent #1 g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 20-feb-2017 Alexander Fleming - - - Jew (Ashkenazi) - - - 1 Luisina Bruno-Instituto Fleming
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Parent #1 g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 20-nov-2016 Alexander Fleming - - - Spanish - - - 1 Luisina Bruno-Instituto Fleming
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Parent #1 g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 16-jan-2017 Hospital Privado Centro Médico de Córdoba - - - Spanish - - - 1 Norma Rossi-Hospital de Córdoba
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA1 - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 16-jan-2017 Hospital Privado Centro Médico de Córdoba - - Ovarian cancer Italian-Spanish - - Breast cancer, Ovarian cancer 1 Norma Rossi-Hospital de Córdoba
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 18-apr-2017 CEMIC - - - European - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Unknown no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 12-may-2017 BIOMAKERS Molecular Pathology &, Research - Specific pathology -- Spanish-Argentinian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 20-mar-2017 CEMIC - - - Italian-Spanish - - - 1 Laura Vargas Roig-IMBECU
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 17-apr-2017 Hospital Privado Centro Médico de Córdoba - - - Arab-Spanish - - - 1 Norma Rossi-Hospital de Córdoba
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 14-jun-2017 Hospital Privado Centro Médico de Córdoba - - - Unknown - - - 1 Norma Rossi-Hospital de Córdoba
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA1 - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 22-may-2017 CEMIC - - - Spanish-Basque - - - 1 Lucas Sanchez-Sanatorio Méndez
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 16-apr-2017 Hospital Privado Centro Médico de Córdoba - - - Italian - - - 1 Norma Rossi-Hospital de Córdoba
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 15-aug-2017 Clinica Universitaria Reina Fabiola - - - Italian - - - 1 Jose Llugdar-Clínica Reina Fabiola
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 6-jun-2017 CEMIC - - -- Spanish-Italian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 18-may-2017 CEMIC - - -- Italian-Spanish - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA2 - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 5-jan-2017 High Medic Group - Specific pathology - Polish-Russian - - - 1 Janeth Lara Alcantara-Hospital Alvarez
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA1 - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 19-jun-2017 CEMIC - - -- Spanish - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 19-jun-2017 CEMIC - - -- Irish-Argentinian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 14-jun-2017 CEMIC - - - Argentinian - - - 1 Lucas Sanchez-Sanatorio Méndez
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG, z-score-CNV 13-mar-2017 Héritas - - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG, z-score-CNV 18-apr-2017 Héritas - - - Italian - - - 1 Jesica Ramirez-Hospital Central de Mendoza
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA1 - Unknown g.43093454C>T - BRCA1_000016 - - DNA MLPA, SEQ-NG 26-feb-2017 CEMIC - - Ovarian cancer Italian - - Breast cancer, Ovarian cancer 1 Jesica Ramirez-Hospital Central de Mendoza
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA2 - Unknown g.43093454C>T - BRCA1_000016 - - DNA MLPA, SEQ-NG 23-jan-2018 CEMIC - - - Spanish-Italian - - - 1 Jose Llugdar-Clínica Reina Fabiola
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 8-aug-2017 CEMIC - - - Italian-Spanish - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 15-jan-2017 Domeq&, Lafage - - Breast cancer Italian-Paraguayan - - Breast cancer 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 3-jan-2018 CEMIC Panel CEMIC - - Italian-Spanish - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 2-may-2018 Domeq&, Lafage - - Ovarian cancer Polish-Ashkenazi - - Breast cancer, Ovarian cancer 1 Lina Nuñez-Hospital Alemán
-/- 7i c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 14-mar-2018 Domeq&, Lafage - - - Argentinian-Italian - - - 1 Rita Valdez-Hospital Alemán
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 14-dec-2017 CEMIC - - - Spanish-French - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 27-dec-2017 CEMIC PE - - Ukrainian-German-Argentinian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 31-oct-2017 CEMIC - Specific pathology panel - Spanish-Italian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA1 - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 25-apr-2018 Stamboulian - Specific pathology panel Breast cancer Italian - - Hereditary Breast and Ovarian cancer syndrome, BRCA1 and/or BRCA2 genes 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA1 - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 21-dec-2017 CEMIC - Specific pathology panel - Spanish-Italian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 12-jan-2018 CEMIC - Specific pathology panel - Spanish-Italian-German - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 8-feb-2018 CEMIC - Specific pathology panel - Ashkenazi - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 5-jan-2018 CEMIC - Specific pathology panel - Italian-Basque-French - - - 1 Pablo Kalfayan-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 6-feb-2018 CEMIC - Specific pathology panel - Spanish-French - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA2 - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 19-apr-2018 CEMIC - Specific pathology panel - Italian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 16-apr-2018 CEMIC - Specific pathology panel - Russian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 19-mar-2018 CEMIC - Specific pathology panel - Italian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 21-aug-2018 Domeq&, Lafage - Specific pathology panel Breast cancer Spanish-Italian-German-Argentinian - - Breast cancer 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Homo BRCA1 - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 26-sep-2018 Stamboulian - Known familial mutation, Specific pathology panel N/A Spanish-Italian - - Hereditary Breast and Ovarian cancer syndrome, BRCA1 and/or BRCA2 genes 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 21-may-2018 CEMIC - Multigenetic panel Breast cancer Russian-Ashkenazi - - Breast cancer, Endometrial cancer, Parotid cancer 1 Lina Nuñez-Private Practice
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 16-oct-2018 Genia - Specific pathology panel -- Italian - - - 1 Gabriela Norese-Hospital de Clínicas
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 21-may-2018 CEMIC - Specific pathology panel - Spanish-Argentinian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 3-apr-2019 Hidalgo - Specific pathology Breast cancer German-Basque - (antec ambos/explica cuadro) Breast cancer 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 17-may-2018 CEMIC - Specific pathology - Italian - - - 1 Lucas Sanchez-Sanatorio Méndez
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 17-may-2018 CEMIC - Specific pathology - Italian - - - 1 Lucas Sanchez-Sanatorio Méndez
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 11-may-2018 Hospital Universitario Austral - Specific pathology - Italian - - - 1 Francisca Masllorens-Hospital Austral
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNVs, SEQ-NG 28-abr-2017 Héritas - Specific pathology -- italian - - - 1 Angeles Nico-Instituto Roffo
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA1 - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNVs, SEQ-NG 8-jan-2018 IACA - Specific pathology Breast cancer Irish-Peruvian - (explica cuadro/antec ambos) Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero BRCA2 - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 26-sep-2018 IACA CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel Breast cancer Italian - (antec ambos/explica cuadro) Breast cancer, Ovarian cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 16-mar-2019 IACA - Specific pathology - French-Argentinian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Not specified no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 30-sep-2019 IACA - Specific pathology - Italian-Basque-Ashkenazi - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 26-nov-2018 IACA - Specific pathology - Italian-Argentinian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 10-jul-2017 IACA - Specific pathology - Argentinian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 11 c.2077G>A r.(?) p.(Asp693Asn) Not specified no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 9-dec-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 24-apr-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 7-may-2019 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 26-sep-2018 IACA - Specific pathology - Italian-Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 7-nov-2019 CEMIC - Specific pathology - Not available - - - 1 Laura Vargas Roig-IMBECU
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 16-jan-2019 Domeq&, Lafage - Specific pathology Breast cancer Paraguayan-Amerindian - - Breast cancer 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 10-oct-2019 Domeq&, Lafage - Multigenetic panel - Caucasian - - - 1 Erika Stegmayer-CIOC
./- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA SEQ-NG 3-oct-2019 CEMIC - Multigenetic panel - Italian - - - 1 Dolores Mansilla-Instituto Roffo
-/- 11 c.2077G>A r.(?) p.(Asp693Asn) Hetero no - Unknown g.43093454C>T - BRCA1_000016 - - DNA CNV, SEQ-NG 27-nov-2019 Invitae (deriv. Genesia) Invitae Multi-Cancer Panel (84 genes) Multigenetic panel Colon cancer Spanish-Italian - - Colon cancer 1 Lina Nuñez-Private Practice
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