Full data view for gene BRCA2

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

43 entries on 1 page. Showing entries 1 - 43.
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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.2229T>C r.(=) p.(=) Hetero BRCA1 - Parent #1 g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG, z-score-CNV 20-mar-2017 Héritas - - Ovarian cancer Ashkenazi - - Breast cancer, Ovarian cancer 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Parent #1 g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 5-dec-2016 Alexander Fleming - - - Spanish-Italian - - - 1 Luisina Bruno-Instituto Fleming
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 16-jan-2017 Hospital Privado Centro Médico de Córdoba - - - Italian-Spanish - - - 1 Norma Rossi-Hospital de Córdoba
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 22-feb-2017 Clinica Universitaria Reina Fabiola - - - Irish-Ashkenazi - - - 1 Norma Rossi-Hospital de Córdoba
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 17-mar-2017 Domeq&, Lafage - - N/A Spanish - - Breast cancer, Meduloblastoma 1 Lina Nuñez-Private Practice
-/- 11 c.2229T>C r.(=) p.(=) Hetero BRCA2 - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG, z-score-CNV 3-may-2017 Héritas - - - European - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG, z-score-CNV 9-may-2017 Héritas - - - European - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 15-feb-2017 Alexander Fleming - - - Argentinian-Spanish-French - - - 1 Pablo Kalfayan-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 3-may-2017, 22-aug-2018 CEMIC - Multigenetic panel -- Spanish-Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 11 c.2229T>C r.(=) p.(=) Hetero BRCA1 - Unknown g.32336584T>C - BRCA2_000018 - - DNA MLPA, SEQ-NG 6-jun-2017 Argenomics Interpretation of results by CEMIC - - Bolivian - - - 1 Dolores Mansilla-Instituto Roffo
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 8-mar-2017 CEMIC - - -- Italian-French - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 12-jun-2017 Hospital Privado Centro Médico de Córdoba - - - Spanish - - - 1 Claudia Martin-Hospital de Córdoba
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 27-mar-2017 CEMIC - - -- Polish-Japanese - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 22-jun-2017 Hospital Privado Centro Médico de Córdoba - - - Italian-Argentinian - - - 1 Claudia Martin-Hospital de Córdoba
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 3-may-2017 CEMIC - - -- Italian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG, z-score-CNV 25-apr-2017 Héritas - - -- Bolivian - - - 1 Lucas Sanchez-Sanatorio Méndez
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG, z-score-CNV 10-mar-2017 Héritas Panel Héritas (8 genes) Multigenetic panel - Not available - - - 1 Gonzalo Tabares-CEMA
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 11-oct-2017 Domeq&, Lafage - - - Italian - - - 1 Rita Valdez-Hospital Alemán
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG, z-score-CNV 05-apr-2017 Héritas - - - Spanish - - - 1 Jesica Ramirez-Hospital Central de Mendoza
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 22-oct-2017 Turner - Specific pathology - Italian-Spanish - - - 1 Patricia Quaglio-Consultorio AGO Lab CIGEN
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 30-sep-2016 CEMIC - - - Spanish - - - 1 Laura Vargas Roig-IMBECU
-/- 11 c.2229T>C r.(=) p.(=) Hetero BRCA2 - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 20-dic-2017 Hospital Privado Centro Médico de Córdoba - - Breast cancer Italian - - Breast cancer, Lung cancer 1 Claudia Martin-Hospital de Córdoba
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 10-aug-2017 CEMIC - - - Spanish-Argentinian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 7-sep-2017 CEMIC - - -- Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 2-oct-2017 CEMIC - - - Italian - - - 1 Laura Igarzabal-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 31-may-2018 Domeq&, Lafage - - Breast cancer Spanish-Argentinian-Scot-Irish - - Breast cancer 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 27-dec-2017 CEMIC PE - - Ukrainian-German-Argentinian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 23-nov-2017 CEMIC PE - - Spanish-Italian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 18-sep-2017 CEMIC PE - - Japanese - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero BRCA2 - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 27-jun-2018 Centro de diagnóstico molecular - Specific pathology panel -- Spanish-Italian - - - 1 Gabriela Norese-Hospital de Clínicas
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 10-jan-2017 CEMIC - Specific pathology panel - Ashkenazi - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero BRCA2 - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 4-jun-2018 CEMIC - Specific pathology panel - Spanish-Italian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.2229T>C r.(=) p.(=) Hetero BRCA2 - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG, z-score-CNV 20-feb-2017 Héritas - Specific pathology - Caucasian - - - 1 Laura Vargas Roig-IMBECU
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 14-may-2018 Hospital Universitario Austral - Specific pathology - Spanish - - - 1 Francisca Masllorens-Hospital Austral
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 7-mar-2018 Domeq&, Lafage - Specific pathology Breast cancer Italian-Spanish - (antec ambos/NO explica cuadro) Breast cancer 1 Lina Nuñez-Private Practice
-/- 11 c.2229T>C r.(=) p.(=) Hetero BRCA2;MSH2 - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 4-jan-2019 Domeq&, Lafage - Specific pathology Breast cancer, Ovarian cancer Turk-Sephardic-Italian-Spanish-Argentinian - CIA (antec ambos/explica cuadro clínico) Breast cancer, Colon cancer, Ovarian cancer 1 Lina Nuñez-Private Practice
-/- 11 c.2229T>C r.(=) p.(=) Hetero BRCA1 - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 6-jun-2017 Argenomics - Specific pathology -- Unknown - CIA (antec pnales/explica cuadro clínico) - 1 Angeles Nico-Instituto Roffo
-/- 11 c.2229T>C r.(=) p.(=) Not specified no - Unknown g.32336584T>C - BRCA2_000018 - - DNA CNV, SEQ-NG 11-abr-2019 MANLAB - Specific pathology - Not available - - - 1 Alvaro Yanzi-Instituto San Marcos
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 21-jun-2019 Domeq&, Lafage - Specific pathology Breast cancer, Ovarian cancer German-Swiss - - Breast cancer, Colon cancer 1 Lina Nuñez-Hospital Alemán
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA CNV, SEQ-NG 29-jul-2019 IACA - Multigenetic panel Breast cancer Argentinian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA CNV, SEQ-NG 16-aug-2019 IACA Panel (APC, ATM, BMPR1A, BRCA1, BRCA2, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, SMAD4, STK11, TP53, VHL) Multigenetic panel Breast cancer, Kidney cancer Spanish-Italian - - Breast cancer, Kidney cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA SEQ-NG 3-feb-2020 CEMIC - Specific pathology - German-Argentinian - - - 1 Dolores Mansilla-Instituto Roffo
./- 11 c.2229T>C r.(=) p.(=) Hetero no - Unknown g.32336584T>C - BRCA2_000018 - - DNA CNV, SEQ-NG 15-jul-2020 IACA - Multigenetic panel - Spanish-Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
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