Full data view for gene POLD1

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

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

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     
./? 24 exon 24 duplication p.(?) Unknown no r.(?) - Unknown exon 24 duplication - POLD1_000006 - - DNA CNV, SEQ-NG 15-aug-2019 Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel Breast cancer Basque - - Breast cancer 1 Norma Rossi-Hospital de Córdoba
?/? 2 c.80A>T p.(Asp27Val) Hetero CHEK2 r.(80a>u) - Unknown g.50398931A>T - POLD1_000010 - - DNA SEQ-NG 14-dec-2021 Hospital Privado Centro Médico de Córdoba - Multigenetic panel - Unknown - - - 1 Claudia Martin-Hospital de Córdoba
-?/-? 3 c.208G>T p.(Val70Phe) Hetero no r.(?) - Unknown g.50399376G>T - POLD1_000009 - - DNA SEQ-NG 22-jan-2021 Fares Taie Panel (56 genes) APC, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, DICE1, FANCC, FANCM, FH, FLCN, GALNT12, HOXB13, KIT, MEN1, MET, MITF, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NYHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RINT1, SDHA, SDHB, SDHC, SDHD, SMAD4, SMARCA4, STK11, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel - Spanish - - - 1 Silvina Sisterna-Hospital de Comunidad
?/? 3 c.208G>T p.(Val70Phe) Hetero no r.(208g>u) - Unknown g.50399376G>T - POLD1_000009 - - DNA SEQ-NG 24-01-20 Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel ( 29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel Breast cancer Italia - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
?/? 3 c.224T>C p.(Ile75Thr) Hetero no r.(?) - Unknown g.50399392T>C - POLD1_000001 - - DNA CNV, SEQ-NG 15-aug-2019 Hospital Privado Centro Médico de Córdoba CNVs could not be determined in exon 7 of gen SDHB Multigenetic panel Gastric cancer Italian - - Breast cancer, Gastric cancer 1 Claudia Martin-Hospital de Córdoba
?/? 3 c.227A>G p.(Asp76Gly) Hetero PALB2 r.(?) - Unknown g.50399395A>G - POLD1_000008 - - DNA SEQ-NG 15-oct-2021 Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel Breast cancer Argentinian - - Breast cancer, Gastric cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
?/? 3 c.227A>G p.(Asp76Gly) Hetero PALB2 r.(227a>g) - Unknown g.50399395A>G - POLD1_000008 - - DNA SEQ-NG 15/10/2021 Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel (30 genes): ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11, TP53 Multigenetic panel Breast cancer Argentinian - - Breast cancer, Gastric cancer 1 Norma Rossi - Sanatorio Allende
?/-? 4 c.455C>T p.(Ala152Val) Hetero no r.(?) RECLASSIFIED JULY 2022 Unknown g.50401916C>T - POLD1_000002 - - DNA CNV, SEQ-NG 14-oct-2019 Hospital Privado Centro Médico de Córdoba Panel breast-ovarian (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel Breast cancer Arab - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
?/? 8 c.883G>A p.(Val295Met) Hetero no r.(883g>a) - Unknown g.50402654G>A - POLD1_000011 - - DNA SEQ-NG 21-dec-2021 Hospital Privado Centro Médico de Córdoba PANEL CÁNCER MAMA-OVARIO (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel -- Native argentinian - - - 1 Virginia Miretti-Hospital de Córdoba
?/? 9 c.992G>A p.(Arg331Gln) Hetero no r.(?) - Unknown g.50403074G>A - POLD1_000003 - - DNA CNV, SEQ-NG 20-aug-2020 Invitae Panel Colon (AXIN2 - BMPR1A - CHEK2 - EPCAM - GREM1 - MLH1 - MSH2 - MSH3 - MSH6 - MUTYH - NTHL1 - PMS2 - POLD1 - POLE - PTEN - SMAD4 - STK11 - TP53 - RPS20) Multigenetic panel -- Italian-Argentinian - - - 1 Maria Laura Gonzalez-Hospital Italiano
?/? 11 c.1322C>T p.(Thr441Met) Hetero no r.(1322c>u) - Unknown g.50406261C>T - POLD1_000013 rs376711125 - DNA SEQ-NG, CNV 07-11-22 Fundación para el Progreso de la Medicina Breast and ovarian cancer panel (28 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1,CDK4,CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1,POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Multigenetic panel Breast cancer Spanish - Italian - - Breast cancer 1 Cecilia Montes-IMGO
-/- 12 c.1485C>T p.(=) Hetero no r.(=) - Unknown g.50406508C>T - POLD1_000004 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
?/-? 19 c.2275G>A p.(Val759Ile) Hetero no r.(?) - Unknown g.50413766G>A - POLD1_000007 - - DNA SEQ-NG 03-nov-2020 Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP57 Multigenetic panel -- Italian; Swiss - - - 1 Cecilia Montes-IMGO
?/- 19 c.2275G>A p.(Val759Ile) Hetero no r.(2275g>a) RECLASSIFIED JULY 2022 Unknown g.50413766G>A - POLD1_000007 - - DNA SEQ-NG 05-05-22 Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 Multigenetic panel -- Spanish - - - 1 Virginia Miretti-Hospital de Córdoba
-/- 23i c.2953+12C>T p.(=) Hetero no r.(=) - Unknown g.50416540C>T - POLD1_000005 - - DNA SEQ-NG 13-apr-2020 CEMIC Panel (ATM, BRCA1/2, TP53, BARD1, VHEK2, PALB2, PTEN, STK11, CDH1, MLH1, MSH2, MSH6, PMS2, EPCAM, MUTYH, POLE, POLD1, NBN) Multigenetic panel - Italian-Basque-French - - - 1 Silvina Sisterna-Hospital de Comunidad
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