Full data view for gene FANCM

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

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

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dbSNP ID     

Variant remarks     

Template     

Technique     

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Type of test     

Disease     

Ethnic origin     

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Cuadro familiar     

Panel size     

Owner     
?/? 7 c.1271G>A p.(Arg424His) Hetero BRCA2 r.(?) - Unknown g.45154784G>A - FANCM_000011 - - DNA SEQ-NG 25-aug-2020 Genda Panel (37 genes) ABRAXAS1, AKT1, ATM, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PIK3CA, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, RECQL, SDHB, SDHD, SMARCA4, STK11, TP53, XRCC2. Multigenetic panel -- Italian; Italian - - - 1 Cecilia Montes-IMGO
?/? 1 c.171G>C p.(Leu57Phe) Hetero BRCA1 . - Unknown g.45136202G>C - FANCM_000001 - - DNA CNV, SEQ-NG 5-dec-2019 Hospital Privado Centro Médico de Córdoba Panel breast&, ovarian 24 genes (ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, CDC73, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PMS2, PTEN, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) Multigenetic panel Breast cancer Italian-Argentinian - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
?/? 1 c.187G>A p.(Glu63Lys) Hetero no r.(?) - Unknown = - FANCM_000012 - - DNA SEQ-NG 21-may-2021 FARESTAIE/Héritas Panel Cancer mama y Ovario (32 genes) ATM,BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL4, RINT1, SDHB, SDHD, SMARCA4, STK11, TP53, XRCC2 Multigenetic panel N/A Italian - - Breast cancer 1 Silvina Sisterna-Hospital de Comunidad
-?/- 11 c.1964A>G p.(Asn655Ser) Hetero no . RECLASSIFIED NOVEMBER 2020 Unknown g.45167125A>G - FANCM_000004 - - DNA CNV, SEQ-NG 30-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 - Spanish - - - 1 Norma Rossi-Hospital de Córdoba
?/-? 14 c.3513T>C p.(Pro1171=) Hetero no . RECLASSIFIED JULY 2022 Unknown g.45176267T>C - FANCM_000006 - - DNA SEQ-NG 11-dec-2019 Hospital Privado Centro Médico de Córdoba CNV could not be determined. 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 Not available - - Breast cancer 1 Norma Rossi-Hospital de Córdoba
?/? 16 c.4366C>T p.(Arg1456Cys) Hetero no r.(=) - Unknown g.45181685C>T - FANCM_000009 - - DNA SEQ-NG 25-aug-2020 Genda Panel de (28 genes) ABRAXAS1, AKT1, ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, FANCC, FANCM, MUTYH, NBN, NF1, PALB2, PIK3CA, PTEN, RAD50, RAD51C, RAD51D, RECQL, RINT1, SDHB, SDHD, STK11, TP53, XRCC2 Multigenetic panel Breast cancer Spanish-Italian - - Breast cancer, Prostate cancer 1 Silvina Sisterna-Hospital de Comunidad
?/? 17 c.4396T>C p.(Ser1466Pro) Hetero no . - Unknown g.45652986T>C - FANCM_000005 - - DNA SEQ-NG 2-sep-2019 Labgenetics (deriv. Pricai) Panel breast&, ovarian 44 genes (APC,ATM,ATR,BARD1,BLM,BRCA1,BRCA2,BRIP1,CDH1,CHEK2,CYP17A1,EPCAM,ARCC2,ERCC4,FAM175A,FANCC,FANCD2,FANCI,FANCM,MEN1,MLH1,MLH3,MRE11A,MSH2,MSH3,MSH6,MUTYH,NBN,PALB2,PMS1,PMS2,PPM1D,PSMC3IP,PTEN,RAD50,RAD51,RAD51B,RAD51C,RAD51D,SLX4,STK11,TNFRSF13B,TP53,WRN) Multigenetic panel - Spanish - - - 1 Dolores Mansilla-Instituto Roffo
?/? 1 c.44G>T p.(Ser15Ile) Hetero no . - Unknown g.45605278G>T - FANCM_000002 - - DNA CNV, SEQ-NG 12-aug-2019 Hospital Privado Centro Médico de Córdoba Panel (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 Bilateral Breast cancer Italian - - Bilateral Breast cancer 1 Claudia Martin-Hospital de Córdoba
?/- 20 c.4799C>T p.(Thr1600Ile) Hetero BRCA2 r.(4799c>u) - Unknown g.45188821C>T - FANCM_000010 - - DNA SEQ-NG 27-jul-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, TP54 Multigenetic panel Breast cancer Italian - - Breast cancer, Colon cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
?/? 20 c.4817T>G p.(Phe1606Cys) Hetero no . - Unknown g.45658042T>G - FANCM_000003 - - DNA CNV, SEQ-NG 30-aug-2019 Hospital Privado Centro Médico de Córdoba Panel (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). CNV in gene CDH1 could not be determined. Multigenetic panel Breast cancer Spanish-Italian - - Breast cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
+/+ 22 c.5791C>T p.(Arg1931*) Hetero no r.(?) RECLASSIFIED NOVEMBER 2020. RISK FACTOR. Unknown g.45198718C>T - FANCM_000007 - - DNA CNV, SEQ-NG 10-sep-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 Spanish - - Breast cancer 1 Norma Rossi-Hospital de Córdoba
?/- 23 c.6141T>C p.(=) Hetero no r.(=) - Unknown =? - FANCM_000012 - - DNA SEQ-NG 08-sep-2021 Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (32 genes) ATM,BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MRE11A, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD50, RAD51C, RAD51D, RECQL4, RINT1, SDHB, SDHD, SMARCA4, STK11, TP53, XRCC2 Multigenetic panel - Spanish-Libanese - - - 1 Claudia Martin-Hospital de Córdoba
+/. 5 c.997C>T p.(Gln333*) Hetero ATM r.(?) - Unknown g.45620678C>T - FANCM_000008 - - DNA SEQ-NG 24-jan-2020 Hospital Privado Centro Médico de Córdoba Panel (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, MLH1, MSH2, MSH6,MUTYH, NBN, NF1, PALB2, PMS2, POLE, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11,TP55 Multigenetic panel Ovarian cancer Italian - - Breast cancer, Ovarian cancer 1 Norma Rossi-Hospital de Córdoba
?/? 1 c.274C>T p.(Arg92Trp) Hetero no r.(274c>u) - Unknown g.45136305C>T - FANCM_000016 - - DNA SEQ-NG 10-03-21 Biogenotec Panel ( 25 genes) APC, ATM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 Multigenetic panel Breast cancer Spanish - Spanish - - Breast cancer, Ovarian cancer 1 Laura Vargas Roig-IMBECU
?/? 4 c.869T>C p.(Ile290Thr) Hetero no r.(869u>c) - Unknown g.45148946T>C - FANCM_000014 - - DNA SEQ-NG 27-jun-2022 Fundación para el Progreso de la Medicina Panel Cancer de mama-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 -- Italian/Italian - - - 1 Norma Rossi - Sanatorio Allende
+/+ 9 c.997C>T p.(Gln333*) Hetero N/A r.(997c>u) - Unknown g.45151475C>T - FANCM_000008 - - DNA SEQ 28-sep-2021 Fundación para el Progreso de la Medicina Analisis de variantes: ATM (NM:000051):c.790del (p.Tyr264fs), FANCM (NM_020937.4): c.997C>, T (p.Gln333Ter) Known familial mutation -- Italian/Italian - - - 1 Norma Rossi - Fundacion Para el Progreso de la Medicina
?/-? 20 c.4799C>T p.(Thr1600Ile) Hetero no r.(4799c>u) - Unknown g.45188821C>T - FANCM_000010 - - DNA SEQ-NG 14-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 -- Spanish/Syrians - - - 1 Virginia Miretti-Hospital de Córdoba
?/-? 20 c.4799C>T p.(Thr1600Ile) Hetero PALB2 r.(4799c>u) - Unknown g.45188821C>T - FANCM_000010 - - DNA SEQ-NG 16-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 -- Spanish/Italian - - - 1 Norma Rossi - Sanatorio Allende
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