Full data view for gene POLE

Information The variants shown are described using the NM_006231.3 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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     
-/- 1i c.62+15C>T p.(=) Hetero no r.(=) - Unknown g.132687239G>A - POLE_000007 - - 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
?/? 2 c.198G>A p.(Met66Ile) Hetero NTHL1 r.(?) - Unknown g.132681144C>T - POLE_000016 - - DNA SEQ-NG 23-dec-2020 Genda Panel Genda (84 genes) Multigenetic panel - Spanish; Spanish - - - 1 Pablo Kalfayan-Hospital Italiano
?/? 6 c.577A>G (p.Ser193Gly) Hetero MSH2;NTHL1 r.? - Unknown g.132679498T>C - POLE_000023 rs760588718 - DNA SEQ-NG 14-11-22 Dasa Genómica - Genia, INVITAE Invitae Multi-cancer panel (84 genes) Multigenetic panel Colorectal cancer Spanish - Spanish - - Colorectal cancer 1 Maria Laura Gonzalez-Hospital Italiano
-/- 8 c.755C>T p.(Ala252Val) Homo no r.(?) - Unknown g.132677409G>A - POLE_000008 - - 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
-/- 9i c.910-6G>C p.(=) Homo no r.(=) - Unknown g.132676210C>G - POLE_000009 - - 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
-/- 9i c.910-6G>C p.(=) Homo no r.(=) - Unknown g.132676210C>G - POLE_000009 - - 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
?/? 13 c.1337G>A p.Arg446Gln Hetero no r.(1337g>a) - Unknown g.132673597C>T - POLE_000019 rs151273553 - DNA SEQ-NG 26-01-22 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary Colorectal Cancer Panel (22 Genes) APC, ATM, BLM, BMPR1A, CDH1, CHEK2, EPCAM, GALNT12, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NTHL1, PMS2, POLD1, POLE, PTEN, SMAD4, STK11, TP53. Multigenetic panel Colon cancer Paraguaian - Argentinean - - Colon cancer 1 Yolanda Isabel Medina - Hospital Juan D. Perón
?/? 14 c.1455T>G p.(Ile485Met) Hetero no r.(1455u>g) - Unknown g.132673182A>C - POLE_000024 rs878854843 - DNA SEQ-NG 28-sep-2023 GENDA, INVITAE Invitae Multi-cancer panel (84 genes) Multigenetic panel Lung cancer, Melanoma Italian/Argentinean - Italian - - Gastric cancer, Lung cancer, Melanoma, Polyposis 1 Pablo Kalfayan - Consultorio Particular.
?/? 19 c.2090C>G p.(Pro697Arg) Hetero no r.(2090c>g) - Unknown g.132668439G>C - POLE_000020 rs36120395 - DNA SEQ-NG, CNV 07-apr-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 Argentinean - Italian - - Breast cancer 1 Cecilia Montes-IMGO
-/- 21 c.2340G>A p.(=) Hetero no r.(=) - Unknown g.132665430C>T - POLE_000010 - - 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
?/? 23 c.2599G>A (p.Val867Ile) Hetero no r.? - Unknown g.132664111C>T - POLE_000026 rs374200895 - DNA SEQ-NG 31-mar-2023 GENOS Massive sequencing of a panel of genes related to hereditary cancer: ACD, AIP, AKT1, ALK, APC, AR, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CSF3R, CTNNA1, DDB2, DICER1, DIS3L2, DKC1, DLST, EGLN1, EGLN2, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GALNT12, GCM2, GDNF, GFI1, GPC3, GPR101, GREM1, HAX1, HNF1A, HNF1B, HOXB13, HRAS, IDH1, JAGN1, KIF1B, KIT, LZTR1, MAD2L2, MAX, MC1R, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2, PARN, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRCC, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RFWD3, RNF139, RNF43, RPS20, RTEL1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRP54, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL, VPS45, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3. Multigenetic panel Colon cancer Italia / Italian - - Colon cancer 1 Maria Laura Gonzalez-Hospital Italiano
-/- 26 c.3156G>A p.(=) Homo no r.(=) - Unknown g.132659414C>T - POLE_000002 - - DNA SEQ-NG 25-nov-2019 CEMIC - Multigenetic panel - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
?/? 26 c.3235A>G p.Ile1079Val Hetero no r.(3235a>g) - Unknown g.132659335T>C - POLE_000025 rs775002004 - DNA SEQ-NG 19-jul-2023 GENOS, Sistemas Genómicos hereditary cancer panel (163 genes) Multigenetic panel Kidney cancer Greek/Basque - - Breast cancer, Colon cancer, kidney cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 27 c.3311C>T p.(Thr1104Met) Hetero no r.(3311c>u) - Unknown g.132657935G>A - POLE_000018 rs531705054 - DNA SEQ-NG, CNV 19-04-21 Laboratorio Flores Hereditary cancer panel (30 genes) Multigenetic panel Breast cancer European - - Breast cancer 1 Erika Stegmayer-CIOC
-/- 29i c.3582+17A>G p.(=) Homo no r.(=) - Unknown g.132657119T>C - POLE_000011 - - 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
?/? 31 c.3919A>G p.(Ile1307Val) Hetero N/A r.(3919a>g) - Unknown g.132649392T>C - POLE_000017 rs1000912264 - DNA SEQ-NG 04-11-2022 Dasa Genómica - Genia Hereditary cancer panel (144 genes) Multigenetic panel Kidney cancer Spanish - native argentinian/Italian - - Breast cancer, Kidney cancer 1 Pablo Kalfayan-Hospital Italiano
-/- 33i c.4290+5C>T p.? Hetero no r.spl? - Unknown g.132643832G>A - POLE_000012 - - 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
?/. 34 c.4328G>C p.(Cys1443Ser) Hetero PALB2 r.(?) - Unknown g.132643523C>G - POLE_000015 - - DNA SEQ-NG 05-oct-2020 Biogenotec Panel Cáncer de mama y ovario BIOGENOTEC (32 genes) ATM, APC, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLE, POLD1, PTEN, RAD50, RAD51C, RAD51D, RECQL4, SMARCA4, STK11, TP53, XRCC2. Multigenetic panel - French Basque; Portuguese - - - 1 Laura Vargas Roig-IMBECU
-/- 34i c.4444+4T>A p.? Hetero no r.spl? - Unknown g.132643403A>T - POLE_000013 - - 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
-/- 35 c.4530A>G p.(=) Homo no r.(=) - Unknown g.132643245T>C - POLE_000003 - - DNA SEQ-NG 25-nov-2019 CEMIC - Multigenetic panel - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
+?/+? 37 c.4953-2A>G p.? Hetero no r.? - Unknown g.132642399T>C - POLE_000027 rs2042166568 - DNA SEQ-NG 31-mar-2023 GENOS Massive sequencing of a panel of genes related to hereditary cancer: ACD, AIP, AKT1, ALK, APC, AR, ATM, ATR, ATRX, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CSF3R, CTNNA1, DDB2, DICER1, DIS3L2, DKC1, DLST, EGLN1, EGLN2, ELANE, EPAS1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, G6PC3, GALNT12, GCM2, GDNF, GFI1, GPC3, GPR101, GREM1, HAX1, HNF1A, HNF1B, HOXB13, HRAS, IDH1, JAGN1, KIF1B, KIT, LZTR1, MAD2L2, MAX, MC1R, MDH2, MEN1, MET, MITF, MLH1, MLH3, MNX1, MRE11, MSH2, MSH3, MSH6, MSR1, MUTYH, NBN, NF1, NF2, NFIX, NHP2, NOP10, NSD1, NTHL1, PALB2, PARN, PDGFRA, PHOX2B, PIK3CA, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRCC, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51, RAD51C, RAD51D, RB1, RECQL, RECQL4, RET, RFWD3, RNF139, RNF43, RPS20, RTEL1, SCG5, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLC25A11, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SRP54, STK11, SUFU, TERC, TERT, TGFBR2, TINF2, TMEM127, TP53, TSC1, TSC2, UBE2T, VHL, VPS45, WAS, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3. Multigenetic panel Colon cancer Italia / Italian - - Colon cancer 1 Maria Laura Gonzalez-Hospital Italiano
?/? 40 c.5395G>A p.(Val1799Ile) Hetero no r.(?) - Unknown g.132639282C>T - POLE_000014 - - DNA SEQ-NG 26-jan-2021 IACA Panel IACA Colon hereditario (24 genes) AXIN2, APC, BMPR1A, CDKN1B, CDH1, CHEK2, EPCAM,GREM1, MLH1, MSH2, MSH6, MUTYH, NTHL1, PMS2, PTEN, POLE, POLD1,SMAD4, SDHA,SDHB, SDHC, SDHD, STK11, TP53. Multigenetic panel Colon cancer Italian - - Colon cancer, Prostate cancer 1 Silvina Sisterna-Hospital de Comunidad
-/- 42 c.5707C>T p.(=) Hetero no r.(=) - Unknown g.132635996G>A - POLE_000004 - - DNA SEQ-NG 25-nov-2019 CEMIC - Multigenetic panel - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 42 c.5707C>T p.(=) Homo no r.(=) - Unknown g.132635996G>A - POLE_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
-/- 45 c.6252A>G p.(=) Homo no r.(=) - Unknown g.132632393T>C - POLE_000005 - - DNA SEQ-NG 25-nov-2019 CEMIC - Multigenetic panel - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
-/- 45 c.6252A>G p.(=) Homo no r.(=) - Unknown g.132632393T>C - POLE_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
?/? 46 c.6434G>A p.(Arg2145Gln) Hetero PTEN r.(?) - Unknown g.132626214C>T - POLE_000001 - - DNA SEQ-NG 19-jan-2020 Dasa Genómica - Genia, INVITAE Invitae Colorectal Panel (30 genes) Multigenetic panel - Spanish-Italian - CIA (antec personales/explica cuadro) - 1 Maria Laura Gonzalez-Hospital Italiano
-/- 46 c.6494G>A p.(Arg2165His) Hetero no r.(?) RECLASSIFIED JULY 2022 Unknown g.132626154C>T - POLE_000006 - - DNA SEQ-NG 25-nov-2019 CEMIC - Multigenetic panel - Italian - - - 1 Pablo Kalfayan-Hospital Italiano
?/? 47 c.6539C>T p.(Ala2180Val) Hetero no r.(6539c>u) - Unknown g.132625763G>A - POLE_000022 rs552452448 - 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
?/? 48 c.6716C>T p.(Ala2239Val) Hetero PALB2 r.(6716c>u) - Unknown g.132624936G>A - POLE_000021 rs190813054 - DNA SEQ-NG, CNV 01-11-22 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 Argentinean - Argentinean - - Breast cancer 1 Cecilia Montes-IMGO
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