Full data view for gene MET

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

13 entries on 1 page. Showing entries 1 - 13.
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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     
?/? 5 c.1655T>C p.(Leu552Pro) Hetero no r.(?) - Unknown g.116740979A>G - MET_000005 - NC_000007.14:g.116740979A>G DNA SEQ-NG 23-mar-2021 Invitae Panel Invitae Multi-cáncer Multigenetic panel Colon cancer Italian - - Colon cancer 1 Jesica Ramirez-Hospital Central de Mendoza
?/? 2 c.914A>G p.(Lys305Arg) Hetero no r.(?) - Unknown g.116699998A>G - MET_000004 - NC_000007.14:g.116699998A>G DNA SEQ-NG 23-mar-2021 Invitae Panel Invitae Multi-cáncer Multigenetic panel Colon cancer Italian - - Colon cancer 1 Jesica Ramirez-Hospital Central de Mendoza
?/? 2i c.43+8C>T p.? Hetero no r.? - Unknown g.116695807C>T - MET_000007 rs1392735114 - DNA SEQ-NG, CNV 04-11-22 GENOS NGS y CNV. Panel (23 genes) ATM, BAP1, BRCA1, BRCA2, CDH1, CHEK2, DICER1, FH, FLCN, MET, MITF, NBN, PALB2, PTEN, SDHA, SDHB, SDHC, SDHD, STK11, TP53, TSC1, TSC2, VHL. Multigenetic panel Kidney cancer Argentinean – Unknown - - Breast cancer, Kidney cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 2 c.143C>T p.(Ala48Val) Hetero no r.(143c>u) - Unknown g.116699227C>T - MET_000008 rs80256822 - DNA SEQ-NG 19-01-23 Dasa Genómica - Genia Hereditary cancer panel (144 genes) Multigenetic panel Pancreatic cancer Italian - Basque - - Colon cancer, Kidney cancer, Pancreatic cancer 1 Pablo Kalfayan-Hospital Italiano
?/? 2 c.465G>T p.(Gln155His) Hetero no r.? - Unknown g.116699549G>T - MET_000015 - - DNA SEQ-NG 16-may-2024 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AKT1, AIP, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51C, RAD51D, RB1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, STK11, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Renal Cell cancer, Thyroid cancer Spanish/Spanish - - Renal cell cancer, Thyroid cancer 1 Marcela Lopez - Instituto Donna
?/? 2 c.1132G>A p.Val378Ile Hetero no r.? - Unknown g.116700216G>A - MET_000014 rs749738523 - DNA SEQ-NG 19-jul-2024 TRILAB ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH6, MSH3, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Breast cancer, Pituitary tumor Italian/Spanish - - Breast cancer, Pituitary tumor 1 Marcela Lopez - Instituto Donna
?/? 6 c.1771C>T p.(Arg591Trp) Hetero no r.? - Unknown g.116755424C>T - MET_000012 rs45602940 - DNA SEQ-NG 29-sep-2023 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ABRAXAS1, ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, CTRC, DDB2, DICER1, DIS3L2, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GALNT12, GATA2, GPC3, GREM1, HOXB13, KIF1B, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PIK3CA, PMS2, POLD1, POLE, POT1, PRKAR1A, PTCH1, PTEN, RAD50, RAD51, RAD51B, RAD51C, RAD51D, RB1, RET, RHBDF2, RINT1, RUNX1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SPINK1, SPRED1, STK11, SUFU, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, WT1, XPA, XPC, XRCC2. Multigenetic panel Breast cancer Spanish/Spanish - - Breast cancer 1 Marcela Lopez-CEMAFE
?/? - c.2111A>C p.(Asn704Thr) Hetero no r.? - Unknown g.? - PMS2_000065 - - DNA SEQ-NG, CNV 21-may-2024 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS HEREDITARY CANCER SYNDROME (78 genes) ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Breast cancer Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 9 c.2263A>G p.(Ser755Gly) Hetero no r.(?) - Unknown g.116758619A>G - MET_000016 - - DNA SEQ-NG 12-Feb-2025 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer panel (NGS) — Gene panel: ACD, AIP,AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A,CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1,MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Colorectal cancer Bolivian - - Colon cancer 1 Luisina Bruno-Instituto Fleming
?/? 10 c.2318C>T p.(Pro773Leu) Hetero no r.(2318c>u) - Unknown g.116759444C>T - MET_000009 rs771333219 - DNA SEQ-NG 30-09-22 Dasa Genómica - Genia AIP, ALK, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DICER1, DIS3L2, DKC1, EGFR, EGLN1, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, EXT1, EXT2, EZH2, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GREM1, HDAC2, HNF1A, HOXB13, HRAS, IDUA, KIF1B, KIT, KMT2D, LZTR1, MAX, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NSD1, NTHL1, PALB2, PDGFRA, PHOX2B, PMS1, PMS2, PMS2CL, POLD1, POLE, POLH, POT1, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, RAD50, RAD51C, RAD51D, RB1, RECQL4, RET, RHBDF2, RUNX1, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, STK11, SUFU, TERC, TERT, TINF2, TMEM127, TP53, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2. Multigenetic panel Breast cancer Spanish - Italian/Spanish - - Breast cancer 1 Cecilia Montes-IMGO
?/? 14 c.2975C>T p.(Thr992Ile) Hetero no r.? - Unknown g.116771936C>T - MET_000011 rs56391007 - DNA SEQ-NG 19-jul-2024 GENOS, SENTIS SENTIS Hereditary Cancer Panel (90 genes) Multigenetic panel Kidney cancer Polish jew (Ashkenazi)/Polish jew (Ashkenazi) - - Breast cancer, Kidney cancer 1 Pablo Kalfayan - Consultorio Particular.
?/? 14 c.2975C>T p.(Thr992Ile) Hetero no r.? - Unknown g.116771936C>T - MET_000011 - - DNA SEQ-NG 25-jul-2024 GENOS, SENTIS Hereditary cancer panel (85 genes) Multigenetic panel Breast cancer Italian - - Breast cancer, Ovarian cancer 1 Guillermo Alberto-Instituto Fleming
?/? 15 c.3035T>C (p.Phe1012Ser) Hetero no r.(3035u>c) - Unknown g.116774887T>C - MET_000010 rs1794945602 (VUS XRCC2 not yet submitted) DNA SEQ-NG 26-dec-2023 CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS ACD, AIP, AKT1, APC, ATM, BAP1, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CASR, CDC73, CDH1, CDK4, CDKN1B, CDKN2A, CHEK2, DICER1, EPCAM, FANCA, FANCC, FANCL, FANCM, FH, FLCN, GALNT12, GREM1, HOXB13, KIT, LZTR1, MAX, MEN1, MET, MITF, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NTHL1, PALB2, PIK3CA, PMS2, POLD1, POLE, POT1, PTEN, RAD50, RAD51B, RAD51C, RAD51D, RB1, RET, RINT1, SDHA, SDHAF2, SDHB, SDHC, SDHD, SMAD4, SMARCA4, SMARCB1, SPRED1, STK11, TERF2IP, TERT, TMEM127, TP53, TSC1, TSC2, VHL, XRCC2. Multigenetic panel Kidney cancer, Prostate cancer Italian/Italian/German/French - - kidney cancer, Prostate cancer 1 Guillermo Alberto-Instituto Fleming
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