Unique variants in the SMAD9 gene

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

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 1 - c.-98G>A r.(=) p.(=) ACMG VUS g.37453924C>T - -98C>T - SMAD9_000021 - PubMed: Xi 2016 - - Germline/De novo (untested) - - - - - Litika Vermani
-?/. 1 - c.8C>T r.(?) p.(Ser3Phe) other likely benign g.37453819G>A g.36879682G>A - - SMAD9_000057 COSMIC sample ID COSS2121554 - - rs1386703057 Somatic - - - - - Litika Vermani
+?/. 1 - c.35C>T r.(?) p.(Ser12Phe) other likely pathogenic g.37453792G>A g.36879655G>A - - SMAD9_000056 COSMIC sample ID COSS2121671 - - rs766290332 Somatic - - - - - Litika Vermani
-?/. 2 - c.49G>A r.(?) p.(Ala17Thr) other likely benign g.37453778C>T g.36879641C>T - - SMAD9_000027 COSS1899868 - - rs1049883784 Somatic ? - - - - Litika Vermani
-?/. 1 - c.54G>A r.(=) p.(=) other likely benign g.37453773C>T g.36879636C>T - - SMAD9_000055 COSMIC sample ID COSS1651564 PubMed: Cancer Genome Atlas Network 2012 - rs768411249 Somatic - - - - - Litika Vermani
+/., +?/., ?/. 4 2 c.65T>C r.(?) p.(Leu22Pro) ACMG pathogenic, pathogenic (dominant), VUS g.37453762A>G g.36879625A>G SMAD9(NM_001127217.2):c.65T>C (p.L22P, p.(Leu22Pro)) - SMAD9_000010 variant also reported in probands affected mother and half sister, 2 more items PubMed: Gregson 2020, PubMed: Gregson 2020 ClinVar- 210242, ClinVar-213811 rs111748421 CLASSIFICATION record, Germline yes - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, Litika Vermani
+?/. 1 - c.91G>A r.(?) p.(Glu31Lys) other likely pathogenic g.37453736C>T g.36879599C>T - - SMAD9_000054 COSMIC sample ID COSS2894845 PubMed: Rabbie 2021 - - Somatic - - - - - Litika Vermani
+?/. 1 - c.127A>G r.(?) p.(Lys43Glu) - likely pathogenic (!) g.37453700T>C g.36879563T>C - - SMAD9_000020 1 more item PubMed: Nasim 2011 ClinVar-56969 - Germline/De novo (untested) - - - - - Litika Vermani
+/. 1 - c.145_148del r.(?) p.(Lys49GlufsTer41) - 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 - - - - - VKGL-NL_Groningen
+?/. 1 - c.193C>T r.(?) p.(Pro65Ser) other likely pathogenic g.37453634G>A g.36879497G>A - - SMAD9_000053 - PubMed: van de Wetering 2015 - rs781679938 Somatic - - - - - Litika Vermani
+?/. 1 - c.214C>T r.(?) p.(Pro72Ser) other likely pathogenic g.37453613G>A g.36879476G>A - - SMAD9_000052 COSMIC sample ID COSS2894863 PubMed: Rabbie 2021 - - Somatic - - - - - Litika Vermani
-?/. 1 - c.228C>T r.(=) p.(=) other likely benign g.37453599G>A g.36879462G>A - - SMAD9_000051 COSMIC sample ID COSS1651645 - - rs938475620 Somatic - - - - - Litika Vermani
+?/. 2 13 c.251G>A r.(?) p.(Arg84His) other likely pathogenic g.37453576C>T g.36879439C>T - - SMAD9_000026 - - - rs759141619 Somatic - - - - - Litika Vermani
+?/. 2 - c.280C>T r.(?) p.(Arg94Cys) other likely pathogenic g.37453547G>A g.36879410G>A - - SMAD9_000050 COSMIC sample ID COSS1783518, COSMIC sample ID COSS2521307 PubMed: Sharpe 2015 - rs760239836 Somatic - - - - - Litika Vermani
+?/. 1 - c.289C>A r.(?) p.(Arg97Ser) other likely pathogenic g.37453538G>T g.36879401G>T - - SMAD9_000049 COSMIC sample ID COSS1651332 PubMed: Cancer Genome Atlas Network 2012 - - Somatic - - - - - Litika Vermani
+?/. 5 - c.289C>T r.(?) p.(Arg97Cys) other likely pathogenic g.37453538G>A g.36879401G>A - - SMAD9_000048 COSMIC sample ID COSS1651010, COSMIC sample ID COSS2122007, COSMIC sample ID COSS2810485 PubMed: Cancer Genome Atlas Network 2012, PubMed: Vossen 2018 - rs1483291649 Somatic - - - - - Litika Vermani
-?/. 1 - c.301C>T r.(=) p.(=) other likely benign g.37453526G>A g.36879389G>A - - SMAD9_000047 - - - rs757282095 Somatic - - - - - Litika Vermani
+?/. 1 - c.336C>A r.(?) p.(Cys112*) other likely benign g.37453491G>T g.36879354G>T - - SMAD9_000046 COSMIC sample ID COSS1783334 - - - Somatic - - - - - Litika Vermani
+?/. 1 - c.374G>A r.(?) p.(Cys125Tyr) other likely pathogenic g.37453453C>T g.36879316C>T - - SMAD9_000045 COSMIC sample ID COSS2187823 - - - Somatic - - - - - Litika Vermani
-?/. 1 - c.396C>T r.(=) p.(=) other likely benign g.37453431G>A g.36879294G>A - - SMAD9_000044 COSMIC sample ID COSS1783335 - - rs764914823 Somatic - - - - - Litika Vermani
-?/. 1 - c.411A>G r.(=) p.(=) other likely benign g.37453416T>C g.36879279T>C - - SMAD9_000043 COSMIC sample ID COSS2198136 - - - Somatic - - - - - Litika Vermani
-?/. 1 - c.423T>A r.(=) p.(=) other likely benign g.37447042A>T g.36872905A>T - - SMAD9_000042 - - - - Somatic - - - - - Litika Vermani
-?/. 1 - c.434C>A r.(?) p.(Pro145Gln) - 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 - - - Mohammed Faruq
-?/. 1 - c.482G>A r.(?) p.(Arg161His) other likely benign g.37446983C>T g.36872846C>T - - SMAD9_000041 COSMIC sample ID COSS1900158 - - rs200651392 Somatic - - - - - Litika Vermani
-?/. 1 - c.487G>A r.(?) p.(Ala163Thr) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.567C>T r.(=) p.(=) other likely benign g.37446898G>A g.36872761G>A - - SMAD9_000040 COSMIC sample ID COSS2121567 - - - Somatic - - - - - Litika Vermani
?/. 1 2 c.585C>T r.(585c>u) p.(Asn195=) - VUS g.37446880G>A g.36872743G>A - - SMAD9_000001 - - - - De novo - - - - - Xiaochen Qu
+/. 1 2 c.606C>A r.(?) p.(Cys202*) ACMG likely pathogenic g.37446859G>T g.36872722G>T - - SMAD9_000019 - PubMed: Shintani 2009 - - Germline no 1/23 cases - - - Litika Vermani
-?/. 1 - c.655C>T r.(?) p.(Pro219Ser) other likely benign g.37446810G>A g.36872673G>A - - SMAD9_000039 COSMIC sample ID COSS2121635 - - rs769704107 Somatic - - - - - Litika Vermani
-?/. 1 - c.756T>C r.(?) p.(His252=) - likely benign g.37441435A>G - SMAD9(NM_001127217.2):c.756T>C (p.(His252=)) - SMAD9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.768G>A r.(=) p.(=) other likely benign g.37441423C>T g.36867286C>T - - SMAD9_000038 COSMIC sample ID COSS1783388 - - rs372254094 Somatic - - - - - Litika Vermani
-?/. 2 - c.788G>A r.(?) p.(Arg263Gln) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+?/. 1 - c.823T>G r.(?) p.(Ser275Ala) other likely pathogenic g.37439854A>C g.36865717A>C - - SMAD9_000037 COSMIC sample ID COSS2121595 - - - Somatic - - - - - Litika Vermani
+/. 2 5 c.850C>T r.(850c>u), r.(?) p.(Arg284*) ACMG NA, pathogenic g.37439827G>A g.36865690G>A C850T - SMAD9_000022 1 more item PubMed: Thariny 2021, PubMed: Walcott 2018 - rs553369182 Germline/De novo (untested), In silico - 0.018 gnomAD - - - Litika Vermani
-?/. 1 - c.861G>A r.(=) p.(=) other likely benign g.37439816C>T g.36865679C>T - - SMAD9_000036 COSMIC sample ID COSS2565690 - - rs561479397 Somatic - - - - - Litika Vermani
+/. 1 - c.880C>T r.(?) p.(Arg294*) other pathogenic g.37439797G>A g.36865660G>A - - SMAD9_000018 - PubMed: Drake 2011 ClinVar-56970 - Germline/De novo (untested) ? 1/4 cases - - - Litika Vermani
-?/. 1 - c.881G>A r.(?) p.(Arg294Gln) other likely benign g.37439796C>T g.36865659C>T - - SMAD9_000035 COSMIC sample ID COSS2263271 - - rs1382800676 Somatic - - - - - Litika Vermani
-?/. 1 - c.951T>C r.(=) p.(=) other likely benign g.37439726A>G g.36865589A>G - - SMAD9_000034 COSMIC sample ID COSS1651011 - - - Somatic - - - - - Litika Vermani
?/. 1 - c.971C>T r.(?) p.(Thr324Met) - VUS g.37439706G>A - SMAD9(NM_001127217.2):c.971C>T (p.T324M) - SMAD9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1004-1G>C r.spl? p.? - 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 - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1014G>T r.(?) p.(Leu338Phe) other likely pathogenic g.37427802C>A g.36853665C>A - - SMAD9_000033 COSMIC sample ID COSS1914055 - - - Somatic - - - - - Litika Vermani
+?/. 1 - c.1039G>T r.(?) p.(Ala347Ser) other likely pathogenic g.37427777C>A g.36853640C>A - - SMAD9_000032 COSMIC sample ID COSS2198074 - - - Somatic - - - - - Litika Vermani
-?/. 1 - c.1047C>T r.(?) p.(Cys349=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1048G>A r.(?) p.(Val350Met) other likely benign g.37427768C>T g.36853631C>T - - SMAD9_000031 COSMIC sample ID COSS2194404 - - rs757281925 Somatic - - - - - Litika Vermani
-?/. 2 - c.1059C>T r.(=) p.(=), p.(Ser353=) other likely benign g.37427757G>A g.36853620G>A - - SMAD9_000030 COSMIC sample ID COSS2121635, COSMIC sample ID COSS2197995 - - rs772038868 Somatic - - - - - Litika Vermani
?/. 2 - c.1073A>G r.(?) p.(Gln358Arg) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 2 - c.1079G>A r.(?) p.(Arg360Gln) other likely benign g.37427737C>T g.36853600C>T - - SMAD9_000029 COSMIC sample ID COSS1890921, COSMIC sample ID COSS2339190 PubMed: Dulak 2013 - rs777628484 Somatic - - - - - Litika Vermani
?/. 1 - c.1088A>G r.(?) p.(Asn363Ser) - 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 - - - - - VKGL-NL_Rotterdam
+?/., ?/. 2 6 c.1117G>A r.(?) p.(Val373Ile) ACMG VUS g.37427699C>T g.36853562C>T SMAD9(NM_001127217.2):c.1117G>A (p.V373I) - SMAD9_000006 VKGL data sharing initiative Nederland PubMed: Gelinas 2020 ClinVar-311894 rs140504903 CLASSIFICATION record, Germline - 1/18 patients analyzed - - - VKGL-NL_Rotterdam, Litika Vermani
?/. 2 - c.1161C>A r.(?) p.(Asn387Lys) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1260+17A>C r.(=) p.(=) - 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 - - - - - VKGL-NL_AMC
?/. 1 - c.1282C>T r.(?) p.(Arg428Cys) - VUS g.37422935G>A g.36848798G>A - - SMAD9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1357C>G r.(?) p.(Leu453Val) other likely benign g.37422860G>C g.36848723G>C - - SMAD9_000028 COSMIC sample ID COSS1898126 - - - Somatic - - - - - Litika Vermani
-?/. 2 - c.*870T>C r.(=) p.(=) - likely benign g.37421943A>G g.36847806A>G - - SMAD9_000014 231 heterozygous; Clinindb (India), 4 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs17804636 Germline - 231/2795 individuals, 4/2795 individuals - - - Mohammed Faruq
-?/. 1 - c.*2905T>C r.(=) p.(=) - 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 - - - Mohammed Faruq
+/. 1 13q13.3 c.*3423T>C r.(=) p.(=) ACMG likely pathogenic (dominant) g.37419390A>G - - - SMAD9_000023 1 more item PubMed: Ngeow 2015 ClinVar-000401950.1 rs781292297 Germline yes - - - - Litika Vermani
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