Full data view for gene SMAD9

Information The variants shown are described using the NM_001127217.2 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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-?/. - c.-98G>A r.(=) p.(=) Unknown ACMG VUS g.37453924C>T - -98C>T - SMAD9_000021 - PubMed: Xi 2016 - - Germline/De novo (untested) - - - - - DNA MLPA, PCR Peripheral blood - PPH2 Pat285 PubMed: Xi 2016 - ? ? China Chinese Han - - - - 1 Litika Vermani
-?/. - c.8C>T r.(?) p.(Ser3Phe) Unknown other likely benign g.37453819G>A g.36879682G>A - - SMAD9_000057 COSMIC sample ID COSS2121554 - - rs1386703057 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, skin TCGA-D3-A5GU-06 - - M - - - - - - - 1 Litika Vermani
+?/. - c.35C>T r.(?) p.(Ser12Phe) Unknown other likely pathogenic g.37453792G>A g.36879655G>A - - SMAD9_000056 COSMIC sample ID COSS2121671 - - rs766290332 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, skin TCGA-EE-A2M5-06 - - M - - - - - - - 1 Litika Vermani
-?/. - c.49G>A r.(?) p.(Ala17Thr) Unknown other likely benign g.37453778C>T g.36879641C>T - - SMAD9_000027 COSS1899868 - - - Somatic - - - - - DNA SEQ-NG-I Fresh Frozen Tumor tissue WGS cancer, breast TCGA-B6-A0WV-01 - - F ? - - - - - - 1 Litika Vermani
-?/. - c.49G>A r.(?) p.(Ala17Thr) Unknown other likely benign g.37453778C>T g.36879641C>T - - SMAD9_000027 - - - rs1049883784 Somatic ? - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, rectal TCGA-EI-6917-01 PubMed: Cancer Genome Atlas Network 2012 - M ? - - - - - - 1 Litika Vermani
-?/. - c.54G>A r.(=) p.(=) Unknown other likely benign g.37453773C>T g.36879636C>T - - SMAD9_000055 COSMIC sample ID COSS1651564 PubMed: Cancer Genome Atlas Network 2012 - rs768411249 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, rectal TCGA-AG-3892-01 PubMed: Cancer Genome Atlas Network 2012 - F - - - - - - - 1 Litika Vermani
?/. - c.65T>C r.(?) p.(Leu22Pro) Unknown - VUS g.37453762A>G g.36879625A>G SMAD9(NM_001127217.2):c.65T>C (p.L22P, p.(Leu22Pro)) - SMAD9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65T>C r.(?) p.(Leu22Pro) Unknown - VUS g.37453762A>G g.36879625A>G SMAD9(NM_001127217.2):c.65T>C (p.L22P, p.(Leu22Pro)) - SMAD9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.65T>C r.(?) p.(Leu22Pro) Maternal (confirmed) ACMG pathogenic (dominant) g.37453762A>G g.36879625A>G - - SMAD9_000010 variant also reported in probands affected mother and half sister PubMed: Gregson 2020 ClinVar-213811 - Germline yes - - - - DNA PCRq, SEQ, SEQ-NG-I Peripheral blood WES OPTA FamPatIII.1 PubMed: Gregson 2020 3-generation family, 3 affected (3F) F - United Kingdom (Great Britain) white - - - - 3 Litika Vermani
+/. 2 c.65T>C r.(?) p.(Leu22Pro) Maternal (confirmed) ACMG pathogenic g.37453762A>G - - - SMAD9_000010 rare variant (ExAC MAF 0.0023 in European non‐Finnish populations), affects a highly evolutionarily conserved base (GERP 5.53), predicted to be pathogenic by multiple protein‐prediction algorithms (deleterious by SIFT,16 probably damaging by Polyphen,15 and disease causing by MutationTaster23 and PMut22) PubMed: Gregson 2020 ClinVar- 210242 rs111748421 Germline yes - - - - DNA SEQ, SEQ-NG - - osteoporosis UK case PubMed: Gregson 2020 - F no United Kingdom (Great Britain) White - - - - 1 Litika Vermani
+?/. - c.91G>A r.(?) p.(Glu31Lys) Unknown other likely pathogenic g.37453736C>T g.36879599C>T - - SMAD9_000054 COSMIC sample ID COSS2894845 PubMed: Rabbie 2021 - - Somatic - - - - - DNA SEQ-NG-I Metastasis tumor sample WES cancer, skin PD42103a PubMed: Rabbie 2021 - M - - - - - - - 1 Litika Vermani
+?/. - c.127A>G r.(?) p.(Lys43Glu) Unknown - likely pathogenic (!) g.37453700T>C g.36879563T>C - - SMAD9_000020 not found in 960 European control, 284 French controls, 340 Japanese controls; ACMG classification submitter: BS3 (in vitro study shows no evidence of mislocalisation or protein degradation), PM6 (variant is assumed de novo, parents could not be tested), PM2 (absent from control population) PubMed: Nasim 2011 ClinVar-56969 - Germline/De novo (untested) - - - - - DNA, RNA, protein PCRq, SEQ, Western Lung tissue, blood - PPH2 Case 4 PubMed: Nasim 2011 - F - Japan Japan - - - intravenous epoprostenol Lung transplantation 1 Litika Vermani
+/. - c.145_148del r.(?) p.(Lys49GlufsTer41) Unknown - pathogenic g.37453680_37453683del g.36879543_36879546del SMAD9(NM_001127217.3):c.145_148delAAGG (p.K49Efs*41) - SMAD9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.193C>T r.(?) p.(Pro65Ser) Unknown other likely pathogenic g.37453634G>A g.36879497G>A - - SMAD9_000053 - PubMed: van de Wetering 2015 - rs781679938 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, colon I2L-P7-Tumor-Organoid PubMed: van de Wetering 2015 - F - - - - - - - 1 Litika Vermani
+?/. - c.214C>T r.(?) p.(Pro72Ser) Unknown other likely pathogenic g.37453613G>A g.36879476G>A - - SMAD9_000052 COSMIC sample ID COSS2894863 PubMed: Rabbie 2021 - - Somatic - - - - - DNA SEQ-NG-I Metastasis tumor sample WES cancer, skin PD37592c PubMed: Rabbie 2021 - M - - - - - - - 1 Litika Vermani
-?/. - c.228C>T r.(=) p.(=) Unknown other likely benign g.37453599G>A g.36879462G>A - - SMAD9_000051 COSMIC sample ID COSS1651645 - - rs938475620 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, rectal TCGA-G5-6235-01 - - M - - - - - - - 1 Litika Vermani
+?/. 13 c.251G>A r.(?) p.(Arg84His) Unknown other likely pathogenic g.37453576C>T g.36879439C>T - - SMAD9_000026 - - - rs759141619 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue and normal - cancer, colon TCGA-G4-6295-01 PubMed: Cancer Genome Atlas Network 2012 - F ? - - - - - - 1 Litika Vermani
+?/. - c.251G>A r.(?) p.(Arg84His) Unknown other likely pathogenic g.37453576C>T g.36879439C>T - - SMAD9_000026 - - - rs759141619 Somatic - - - - - DNA SEQ-NG-I TUMOR TISSUE - cancer, gastric TCGA-HF-7132-01 - - M ? - - - - - - 1 Litika Vermani
+?/. - c.280C>T r.(?) p.(Arg94Cys) Unknown other likely pathogenic g.37453547G>A g.36879410G>A - - SMAD9_000050 COSMIC sample ID COSS1783518 - - rs760239836 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WGS cancer, endometrial TCGA-D1-A16X-01 - - F - - - - - - - 1 Litika Vermani
+?/. - c.280C>T r.(?) p.(Arg94Cys) Unknown - likely pathogenic g.37453547G>A g.36879410G>A - - SMAD9_000050 COSMIC sample ID COSS2521307 PubMed: Sharpe 2015 - rs760239836 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, skin PT50 PubMed: Sharpe 2015 - - - - - - - - - 1 Litika Vermani
+?/. - c.289C>A r.(?) p.(Arg97Ser) Unknown other likely pathogenic g.37453538G>T g.36879401G>T - - SMAD9_000049 COSMIC sample ID COSS1651332 PubMed: Cancer Genome Atlas Network 2012 - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, colon TCGA-G4-6320-01 PubMed: Cancer Genome Atlas Network 2012 - M - - - - - - - 1 Litika Vermani
+?/. - c.289C>T r.(?) p.(Arg97Cys) Unknown other likely pathogenic g.37453538G>A g.36879401G>A - - SMAD9_000048 - - - rs1483291649 Somatic - - - - - DNA SEQ-NG-I - WES ALL tumor_4169012 - ICGC(MALY-DE) : Malignant Lymphoma (DKFZ,DE) F - - - - - - - 1 Litika Vermani
+?/. - c.289C>T r.(?) p.(Arg97Cys) Unknown other likely pathogenic g.37453538G>A g.36879401G>A - - SMAD9_000048 - - - rs1483291649 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WGS cancer, kidney TCGA-A3-3346-01 - COSMIC sample ID COSS1779783 M - - - - - - - 1 Litika Vermani
+?/. - c.289C>T r.(?) p.(Arg97Cys) Unknown other likely pathogenic g.37453538G>A g.36879401G>A - - SMAD9_000048 COSMIC sample ID COSS1651010 PubMed: Cancer Genome Atlas Network 2012 - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, colon TCGA-AA-3662-01 PubMed: Cancer Genome Atlas Network 2012 - F ? - - - - - - 1 Litika Vermani
+?/. - c.289C>T r.(?) p.(Arg97Cys) Unknown other likely pathogenic g.37453538G>A g.36879401G>A - - SMAD9_000048 COSMIC sample ID COSS2122007 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES NMTC TCGA-EL-A3ZQ-01 - - F - - - - - - - 1 Litika Vermani
+?/. - c.289C>T r.(?) p.(Arg97Cys) Unknown other likely pathogenic g.37453538G>A g.36879401G>A - - SMAD9_000048 COSMIC sample ID COSS2810485 PubMed: Vossen 2018 - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue - HNSCC NKI_OSCC_12 PubMed: Vossen 2018 - ? - - - - - - - 1 Litika Vermani
-?/. - c.301C>T r.(=) p.(=) Unknown other likely benign g.37453526G>A g.36879389G>A - - SMAD9_000047 - - - rs757282095 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WGS cancer, endometrial TCGA-D1-A103-01 - - F - - - - - - - 1 Litika Vermani
+?/. - c.336C>A r.(?) p.(Cys112*) Unknown other likely benign g.37453491G>T g.36879354G>T - - SMAD9_000046 COSMIC sample ID COSS1783334 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WGS cancer, endometrial TCGA-AP-A056-01 - - F - - - - - - - 1 Litika Vermani
+?/. - c.374G>A r.(?) p.(Cys125Tyr) Unknown other likely pathogenic g.37453453C>T g.36879316C>T - - SMAD9_000045 COSMIC sample ID COSS2187823 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, breast TCGA-AN-A0AK-01 - - F - - - - - - - 1 Litika Vermani
-?/. - c.396C>T r.(=) p.(=) Unknown other likely benign g.37453431G>A g.36879294G>A - - SMAD9_000044 COSMIC sample ID COSS1783335 - - rs764914823 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WGS cancer, endometrial TCGA-AP-A059-01 - - F - - - - - - - 1 Litika Vermani
-?/. - c.411A>G r.(=) p.(=) Unknown other likely benign g.37453416T>C g.36879279T>C - - SMAD9_000043 COSMIC sample ID COSS2198136 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, gastric TCGA-BR-8591-01 - - M - - - - - - - 1 Litika Vermani
-?/. - c.423T>A r.(=) p.(=) Unknown other likely benign g.37447042A>T g.36872905A>T - - SMAD9_000042 - - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WGS cancer, endometrial TCGA-B5-A0JY-01 - - F - - - - - - - 1 Litika Vermani
-?/. - c.434C>A r.(?) p.(Pro145Gln) Parent #1 - likely benign g.37447031G>T g.36872894G>T - - SMAD9_000015 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs199957237 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-?/. - c.482G>A r.(?) p.(Arg161His) Unknown other likely benign g.37446983C>T g.36872846C>T - - SMAD9_000041 COSMIC sample ID COSS1900158 - - rs200651392 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, breast TCGA-E2-A1BC-01 - - F - - - - - - - 1 Litika Vermani
-?/. - c.487G>A r.(?) p.(Ala163Thr) Unknown - likely benign g.37446978C>T g.36872841C>T SMAD9(NM_001127217.2):c.487G>A (p.A163T) - SMAD9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.567C>T r.(=) p.(=) Unknown other likely benign g.37446898G>A g.36872761G>A - - SMAD9_000040 COSMIC sample ID COSS2121567 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, skin TCGA-DA-A1HV-06 - - F - - - - - - - 1 Litika Vermani
?/. 2 c.585C>T r.(585c>u) p.(Asn195=) Unknown - VUS g.37446880G>A g.36872743G>A - - SMAD9_000001 - - - - De novo - - - - - DNA SEQ-NG blood - OPLL - - - - - China Han - - - - 1 Xiaochen Qu
+/. 2 c.606C>A r.(?) p.(Cys202*) Paternal (confirmed) ACMG likely pathogenic g.37446859G>T g.36872722G>T - - SMAD9_000019 - PubMed: Shintani 2009 - - Germline no 1/23 cases - - - DNA PCR, SEQ Peripheral blood Gene panel PPH2 Pat14 PubMed: Shintani 2009 3-generation family, 1 affected, unaffected heterozygous carrier father M no Japan Unknown - - - epoprostenol, continuous intravenous prostacyclin 1 Litika Vermani
-?/. - c.655C>T r.(?) p.(Pro219Ser) Unknown other likely benign g.37446810G>A g.36872673G>A - - SMAD9_000039 COSMIC sample ID COSS2121635 - - rs769704107 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, skin TCGA-EE-A29D-06 - - M - - - - - - - 1 Litika Vermani
-?/. - c.756T>C r.(?) p.(His252=) Unknown - likely benign g.37441435A>G - SMAD9(NM_001127217.2):c.756T>C (p.(His252=)) - SMAD9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.768G>A r.(=) p.(=) Unknown other likely benign g.37441423C>T g.36867286C>T - - SMAD9_000038 COSMIC sample ID COSS1783388 - - rs372254094 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WGS cancer, endometrial TCGA-B5-A0JY-01 - - F - - - - - - - 1 Litika Vermani
-?/. - c.788G>A r.(?) p.(Arg263Gln) Unknown - likely benign g.37439889C>T - SMAD9(NM_001127217.2):c.788G>A (p.R263Q), SMAD9(NM_001127217.3):c.788G>A (p.(Arg263Gln)) - SMAD9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.788G>A r.(?) p.(Arg263Gln) Unknown - likely benign g.37439889C>T - SMAD9(NM_001127217.2):c.788G>A (p.R263Q), SMAD9(NM_001127217.3):c.788G>A (p.(Arg263Gln)) - SMAD9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.823T>G r.(?) p.(Ser275Ala) Unknown other likely pathogenic g.37439854A>C g.36865717A>C - - SMAD9_000037 COSMIC sample ID COSS2121595 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, skin TCGA-EB-A41A-01 - - M - - - - - - - 1 Litika Vermani
+/. 5 c.850C>T r.(?) p.(Arg284*) Unknown ACMG pathogenic g.37439827G>A g.36865690G>A C850T - SMAD9_000022 - PubMed: Walcott 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG-I AVM lesion tissue and blood - BAVM patient PubMed: Walcott 2018 - F ? (United Kingdom (Great Britain)) White - - - surgery 1 Litika Vermani
+/. - c.850C>T r.(850c>u) p.(Arg284*) Unknown - NA g.37439827G>A g.36865690G>A - - SMAD9_000022 This is a bioinformatic data analysis of the data obtained from TCGA (cbioprotal). The information on the samples was obtained from TCGA dataset of 452 patients. The authors of this paper have only done bioinformatic analysis using various software like oncoprint data analysis, protein stability analysis, gnomAD analysis etc. No wetlab has been performed in this study. PubMed: Thariny 2021 - rs553369182 In silico - 0.018 gnomAD - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861G>A r.(=) p.(=) Unknown other likely benign g.37439816C>T g.36865679C>T - - SMAD9_000036 COSMIC sample ID COSS2565690 - - rs561479397 Somatic - - - - - DNA SEQ-NG-I blood-bone marrow WES ALL SJERG028_D - - M - - - - - - - 1 Litika Vermani
+/. - c.880C>T r.(?) p.(Arg294*) Unknown other pathogenic g.37439797G>A g.36865660G>A - - SMAD9_000018 - PubMed: Drake 2011 ClinVar-56970 - Germline/De novo (untested) ? 1/4 cases - - - DNA, RNA PCRq, SEQ PAEC and PASMC - PPH2 HPAH-3 PubMed: Drake 2011 - F ? United States - ? - - - 1 Litika Vermani
-?/. - c.881G>A r.(?) p.(Arg294Gln) Unknown other likely benign g.37439796C>T g.36865659C>T - - SMAD9_000035 COSMIC sample ID COSS2263271 - - rs1382800676 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, brain TCGA-TM-A7CF-01 - - F - - - - - - - 1 Litika Vermani
-?/. - c.951T>C r.(=) p.(=) Unknown other likely benign g.37439726A>G g.36865589A>G - - SMAD9_000034 COSMIC sample ID COSS1651011 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, colon TCGA-AA-3663-01 - - M - - - - - - - 1 Litika Vermani
?/. - c.971C>T r.(?) p.(Thr324Met) Unknown - VUS g.37439706G>A - SMAD9(NM_001127217.2):c.971C>T (p.T324M) - SMAD9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1004-1G>C r.spl? p.? Unknown - likely pathogenic g.37427813C>G g.36853676C>G SMAD9(NM_001127217.2):c.1004-1G>C - SMAD9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1014G>T r.(?) p.(Leu338Phe) Unknown other likely pathogenic g.37427802C>A g.36853665C>A - - SMAD9_000033 COSMIC sample ID COSS1914055 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WGS cancer, lung TCGA-78-7148-01 - - M - - - - - - - 1 Litika Vermani
+?/. - c.1039G>T r.(?) p.(Ala347Ser) Unknown other likely pathogenic g.37427777C>A g.36853640C>A - - SMAD9_000032 COSMIC sample ID COSS2198074 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, gastric TCGA-BR-6457-01 - - M - - - - - - - 1 Litika Vermani
-?/. - c.1047C>T r.(?) p.(Cys349=) Unknown - likely benign g.37427769G>A g.36853632G>A SMAD9(NM_001127217.2):c.1047C>T (p.C349=) - SMAD9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1048G>A r.(?) p.(Val350Met) Unknown other likely benign g.37427768C>T g.36853631C>T - - SMAD9_000031 COSMIC sample ID COSS2194404 - - rs757281925 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, brain TCGA-DB-5281-01 - - M - - - - - - - 1 Litika Vermani
-?/. - c.1059C>T r.(=) p.(Ser353=) Unknown other likely benign g.37427757G>A g.36853620G>A - - SMAD9_000030 COSMIC sample ID COSS2121635 - - rs772038868 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES melanoma TCGA-EE-A29D-06 - - M ? - - - - - - 1 Litika Vermani
-?/. - c.1059C>T r.(=) p.(=) Unknown other likely benign g.37427757G>A g.36853620G>A - - SMAD9_000030 COSMIC sample ID COSS2197995 - - rs772038868 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, gastric TCGA-FP-A4BE-01 - - M - - - - - - - 1 Litika Vermani
?/. - c.1073A>G r.(?) p.(Gln358Arg) Unknown - VUS g.37427743T>C g.36853606T>C SMAD9(NM_001127217.2):c.1073A>G (p.Q358R), SMAD9(NM_001127217.3):c.1073A>G (p.Q358R) - SMAD9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1073A>G r.(?) p.(Gln358Arg) Unknown - VUS g.37427743T>C - SMAD9(NM_001127217.2):c.1073A>G (p.Q358R), SMAD9(NM_001127217.3):c.1073A>G (p.Q358R) - SMAD9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1079G>A r.(?) p.(Arg360Gln) Unknown other likely benign g.37427737C>T g.36853600C>T - - SMAD9_000029 COSMIC sample ID COSS1890921 PubMed: Dulak 2013 - rs777628484 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, gastric ESO-169 PubMed: Dulak 2013 - M - - - - - - - 1 Litika Vermani
-?/. - c.1079G>A r.(?) p.(Arg360Gln) Unknown other likely benign g.37427737C>T g.36853600C>T - - SMAD9_000029 COSMIC sample ID COSS2339190 - - rs777628484 Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WES cancer, bladder TCGA-G2-AA3C-01 - - M - - - - - - - 1 Litika Vermani
?/. - c.1088A>G r.(?) p.(Asn363Ser) Unknown - VUS g.37427728T>C g.36853591T>C SMAD9(NM_001127217.2):c.1088A>G (p.N363S) - SMAD9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1117G>A r.(?) p.(Val373Ile) Unknown - VUS g.37427699C>T g.36853562C>T SMAD9(NM_001127217.2):c.1117G>A (p.V373I) - SMAD9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 6 c.1117G>A r.(?) p.(Val373Ile) Maternal (confirmed) ACMG VUS g.37427699C>T g.36853562C>T - - SMAD9_000006 - PubMed: Gelinas 2020 ClinVar-311894 rs140504903 Germline - 1/18 patients analyzed - - - DNA SEQ, SEQ-NG-I Peripheral blood WES (Whole exome sequencing) and validation by sanger sequencing hypertension P5 PubMed: Gelinas 2020 family, 3 heterozygous carriers members (proband, mother, maternal grandfather) F no Netherlands;United Kingdom (Great Britain) White 05y - - - 1 Litika Vermani
?/. - c.1161C>A r.(?) p.(Asn387Lys) Unknown - VUS g.37427655G>T g.36853518G>T SMAD9(NM_001127217.2):c.1161C>A (p.N387K) - SMAD9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1161C>A r.(?) p.(Asn387Lys) Unknown - VUS g.37427655G>T g.36853518G>T SMAD9(NM_001127217.2):c.1161C>A (p.N387K) - SMAD9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1260+17A>C r.(=) p.(=) Unknown - likely benign g.37427539T>G g.36853402T>G SMAD9(NM_001127217.3):c.1260+17A>C - SMAD9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282C>T r.(?) p.(Arg428Cys) Unknown - VUS g.37422935G>A g.36848798G>A - - SMAD9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1357C>G r.(?) p.(Leu453Val) Unknown other likely benign g.37422860G>C g.36848723G>C - - SMAD9_000028 COSMIC sample ID COSS1898126 - - - Somatic - - - - - DNA SEQ-NG-I Tumor Tissue WGS cancer, bladder TCGA-G2-A2ES-01ca - - M - - - - - - - 1 Litika Vermani
-?/. - c.*870T>C r.(=) p.(=) Parent #1 - likely benign g.37421943A>G g.36847806A>G - - SMAD9_000014 231 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17804636 Germline - 231/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 231 Mohammed Faruq
-?/. - c.*870T>C r.(=) p.(=) Both (homozygous) - likely benign g.37421943A>G g.36847806A>G - - SMAD9_000014 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17804636 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.*2905T>C r.(=) p.(=) Parent #1 - likely benign g.37419908A>G g.36845771A>G - - SMAD9_000013 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118015060 Germline - 14/2787 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 14 Mohammed Faruq
+/. 13q13.3 c.*3423T>C r.(=) p.(=) Paternal (inferred) ACMG likely pathogenic (dominant) g.37419390A>G - - - SMAD9_000023 significant family history, father had diffuse polyposis and died in his 40s (the patient did not know the cause of death), paternal uncle and aunt died from early- onset colorectal cancer in their 40s PubMed: Ngeow 2015 ClinVar-000401950.1 rs781292297 Germline yes - - - - DNA SEQ-NG-I Genomic DNA was extracted from blood WES JPS 3684TE PubMed: Ngeow 2015 - M no United States White 38y - - - 1 Litika Vermani
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