Full data view for gene BRCA2

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

25 entries on 1 page. Showing entries 1 - 25.
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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.5744C>T r.(?) p.(Thr1915Met) Hetero BRCA1 - Unknown g.32340099C>T - BRCA2_000056 - - 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.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 17-MAR-2017 Domeq&, Lafage - - N/A Italian-Swiss - - Breast cancer 1 Lina Nuñez-Private Practice
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 2-feb-2017 CEMIC - - - Spanish-German - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 31-mar-2017 CEMIC - - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 12-jun-2017 Hospital Privado Centro Médico de Córdoba - - - Argentinian - - - 1 Claudia Martin-Hospital de Córdoba
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 26-apr-2017 CEMIC - - -- Italian-Spanish - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA MLPA, SEQ-NG 16-jun-2017 Hidalgo - - Breast cancer Ucranian-Spanish - - Breast cancer 1 Lina Nuñez-Private Practice
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Homo no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 15-jun-2017 Hospital Privado Centro Médico de Córdoba - - - Spanish - - - 1 Claudia Martin-Hospital de Córdoba
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 11-jul-2017 CEMIC - - -- Irish-Scottish - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 15-aug-2017 Clinica Universitaria Reina Fabiola - - - Italian - - - 1 Jose Llugdar-Clínica Reina Fabiola
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG, z-score-CNV 25-oct-2017 Héritas Panel Héritas (17 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2 Multigenetic panel - Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG, z-score-CNV 25-oct-2017 Héritas Panel Héritas (17 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2 - - Caucasian - - - 1 Gonzalo Tabares-CEMA
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 24-may-2017 Hospital Privado Centro Médico de Córdoba - Specific pathology -- Italian-Argentinian - - - 1 Cecilia Montes-IMGO
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 29-jan-2018 Clinica Universitaria Reina Fabiola - - - Italian - - - 1 Jose Llugdar-Clínica Reina Fabiola
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 8-aug-2017 CEMIC - - - Italian-Spanish - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero BRCA1 - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 26-jul-2017 CEMIC - - - Italian - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG, z-score-CNV 18-jan-2018 Héritas - Specific pathology - Caucasian - - - 1 Erika Stegmayer-Hospital Zenon Santillan
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 13-dec-2017 Domeq&, Lafage - - - Spanish-French - - - 1 Rita Valdez-Hospital Alemán
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 2-aug-2018 CEMIC - Specific pathology panel - Unknown - - - 1 Florencia Petracchi-CEMIC
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA SEQ-NG 14-feb-2019 Clinica Universitaria Reina Fabiola - Specific pathology - Swiss-German-Italian - - - 1 Jose Llugdar-Clínica Reina Fabiola
./- 11 c.5744C>T r.(?) p.(Thr1915Met) Not specified no - Unknown g.32340099C>T - BRCA2_000056 - - DNA CNV, SEQ-NG 10-jan-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PPM1D, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel N/A Spanish-Lebanese - - Breast cancer, Pancreatic cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA CNV, SEQ-NG 2-aug-2018 IACA CNV test of BRCA1, BRCA2, PALB2, RAD51C, RAD51D, TP53. Multigenetic panel Breast cancer Italian-French-Basque - - Melanoma 1 Silvina Sisterna-Hospital de Comunidad
-?/- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - 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.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA CNV, SEQ-NG 19-feb-2019 IACA - Specific pathology - Italian-Ukranian - - - 1 Silvina Sisterna-Hospital de Comunidad
./- 11 c.5744C>T r.(?) p.(Thr1915Met) Hetero no - Unknown g.32340099C>T - BRCA2_000056 - - DNA CNV, SEQ-NG 15-jul-2020 IACA Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53) Multigenetic panel - Italian - - - 1 Silvina Sisterna-Hospital de Comunidad
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