LOVD - Variant listings for TNFRSF10B

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?/? 1 c.-256T>C 1000 Genomes Substitution UTR variant - Not determined - TNFRSF10B_00037 - - - - - -
?/? 1 c.-91C>T dbSNP Substitution UTR variant - Not determined C=0.917/T=0.083 TNFRSF10B_00038 - - - - - -
?/? 1 c.-86C>T 1000 Genomes Substitution UTR variant - Not determined - TNFRSF10B_00036 - - - - - -
?/? 1 c.56G>A dbSNP Substitution Missense p.(Gly19Asp) Probably damaging C=0.989/A=0.011 TNFRSF10B_00002 - - - - - -
?/? 1 c.95C>T dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003 - - - - - -
?/? 1 c.95C>T
    + c.200C>T, c.572T>C
dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003 Colorectal cancer Arai et al., 1998 DNA, RNA PCR, RT-PCR, SSCA - In this study 41 cases were genotyped for variants. Two patients showed the 572T>C variant, one homozygous and one heterozygous. These variants may play a small role in colorectal tumorigenesis.
?/? 1 c.95C>T
    + c.200C>T, c.572T>C, c.1223C>T
dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003 Hepatocellular carcinoma Jeng and Hsu, 2002 DNA PCR - These variants do not appear to be significantly associated with the carcinogenesis of hepatocellular carcinomas.
?/? 1 c.95C>T
    + c.200C>T, TNFRSF10A (1)
dbSNP Substitution Missense p.(Pro32Leu) Benign - TNFRSF10B_00003 Breast cancer Seitz et al., 2002 DNA, RNA PCR, RT-PCR, SSCA - In this study variants in TRAIL and the four TRAIL receptor genes were investigated for in 115 tumour samples and 40 controls. Decreased mRNA expressionof these genes in breast cancer cells appear to be due to another mechanism of gene expression than the variants listed.
?/? 2 c.168C>T dbSNP Substitution Silent p.(=) Not determined - TNFRSF10B_00004 - - - - - -
?/? 2 c.188C>G dbSNP Substitution Missense p.(Pro63Arg) Probably damaging - TNFRSF10B_00005 - - - - - -
?/? 2 c.200C>T dbSNP Substitution Missense p.(Ala67Val) Possibly damaging - TNFRSF10B_00001 - Lee et al., 2010 - - - This variant is associated with survival outcome in early-stage non-small-cell lung cancer (NSCLC).
?/? 2 c.200C>T
    + c.95C>T, c.572T>C
dbSNP Substitution Missense p.(Ala67Val) Possibly damaging - TNFRSF10B_00001 Colorectal cancer Arai et al., 1998 DNA, RNA PCR, RT-PCR, SSCA - In this study 41 cases were genotyped for variants. Two patients showed the 572T>C variant, one homozygous and one heterozygous. These variants may play a small role in colorectal tumorigenesis.
?/? 2 c.200C>T
    + c.95C>T, c.572T>C, c.1223C>T
dbSNP Substitution Missense p.(Ala67Val) Possibly damaging - TNFRSF10B_00001 Hepatocellular carcinoma Jeng and Hsu, 2002 DNA PCR - These variants do not appear to be significantly associated with the carcinogenesis of hepatocellular carcinomas.
?/? 2 c.200C>T
    + c.95C>T, TNFRSF10A (1)
dbSNP Substitution Missense p.(Ala67Val) Possibly damaging - TNFRSF10B_00001 Breast cancer Seitz et al., 2002 DNA, RNA PCR, RT-PCR, SSCA - In this study variants in TRAIL and the four TRAIL receptor genes were investigated for in 115 tumour samples and 40 controls. Decreased mRNA expressionof these genes in breast cancer cells appear to be due to another mechanism of gene expression than the variants listed.
?/? 3 c.270C>T dbSNP Substitution Silent p.(=) Not determined C=0.999/T=0.001 TNFRSF10B_00006 - - - - - -
?/? 3 c.279T>C dbSNP Substitution Silent p.(=) Not determined T=0.997/C=0.003 TNFRSF10B_00007 - - - - - -
?/? 4 c.476G>T 1000 Genomes Substitution Missense p.(Gly159Val) Benign - TNFRSF10B_00033 - - - - - -
?/? 5 c.524A>C dbSNP Substitution Missense p.(Asp175Ala) Probably damaging - TNFRSF10B_00054 - - - - - -
?/? 5 c.533G>A dbSNP Substitution Missense p.(Cys178Tyr) Probably damaging - TNFRSF10B_00053 - - - - - -
?/? 5 c.572T>C dbSNP Substitution Missense p.(Val191Ala) Benign - TNFRSF10B_00011 - - - - - -
?/? 5 c.572T>C
    + c.95C>T, c.200C>T
dbSNP Substitution Missense p.(Val191Ala) Benign - TNFRSF10B_00011 Colorectal cancer Arai et al., 1998 DNA, RNA PCR, RT-PCR, SSCA - In this study 41 cases were genotyped for variants. Two patients showed the 572T>C variant, one homozygous and one heterozygous. These variants may play a small role in colorectal tumorigenesis.
?/? 5 c.572T>C
    + c.95C>T, c.200C>T, c.1223C>T
dbSNP Substitution Missense p.(Val191Ala) Benign - TNFRSF10B_00011 Hepatocellular carcinoma Jeng and Hsu, 2002 DNA PCR - These variants do not appear to be significantly associated with the carcinogenesis of hepatocellular carcinomas.
?/? 5 c.590C>T dbSNP Substitution Missense p.(Thr197Met) Probably damaging C=0.987/T=0.013 TNFRSF10B_00012 - - - - - -
?/? 5 c.602G>T 1000 Genomes Substitution Missense p.(Ser201Ile) Possibly damaging - TNFRSF10B_00032 - - - - - -
?/? 5 c.626G>T NHLBI Exome Sequencing Project Substitution Missense p.(Cys209Phe) Possibly damaging T=1/G=10757 TNFRSF10B_00052 - - - - - -
?/? 5 c.657A>G 1000 Genomes Substitution Silent p.(=) Not determined - TNFRSF10B_00035 - - - - - -
?/? 5 c.677T>C 1000 Genomes Substitution Missense p.(Ile226Thr) Benign - TNFRSF10B_00031 - - - - - -
?/? 5 c.685G>A NHLBI Exome Sequencing Project Substitution Missense p.(Val229Met) Probably damaging A=1/G=10757 TNFRSF10B_00051 - - - - - -
?/? 6 c.769C>T dbSNP Substitution Missense p.(Arg257Cys) Probably damaging C=0.999/T=0.001 TNFRSF10B_00008 - - - - - -
?/? 6 c.770G>A 1000 Genomes Substitution Missense p.(Arg257His) Probably damaging - TNFRSF10B_00030 - - - - - -
?/? 7 c.790C>T dbSNP Substitution Nonsense p.(Arg264*) Not determined - TNFRSF10B_00050 - - - - - -
?/? 7 c.819T>C dbSNP Substitution Silent p.(=) Not determined - TNFRSF10B_00009 - - - - - -
?/? 7 c.825C>T 1000 Genomes Substitution Silent p.(=) Not determined - TNFRSF10B_00034 - - - - - -
?/? 7 c.845C>A 1000 Genomes Substitution Missense p.(Thr282Asn) Possibly damaging - TNFRSF10B_00029 - - - - - -
?/? 8 c.793C>G NHLBI Exome Sequencing Project Substitution Missense p.(Pro265Ala) Probably damaging G=1/C=10757 TNFRSF10B_00049 - - - - - -
?/? 8 c.940C>T 1000 Genomes Substitution Missense p.(Pro314Ser) Probably damaging - TNFRSF10B_00028 - - - - - -
?/? 8 c.941C>T 1000 Genomes Substitution Missense p.(Pro314Leu) Probably damaging - TNFRSF10B_00027 - - - - - -
?/? 9 c.1018C>T - Substitution Nonsense p.(Gln340*) Not determined - TNFRSF10B_00022 98 Non-Hodgkin's lymphoma Lee et al., 2001 DNA PCR, SSCA - This somatic variant is associated with the loss of apoptotic function in non-Hodgkin's lymphoma.
?/? 9 c.1020G>A - Substitution Silent p.(=) Not determined - TNFRSF10B_00015 69 Non-small cell lung cancer (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1045G>T dbSNP Substitution Missense p.(Val349Leu) Possibly damaging - TNFRSF10B_00048 - - - - - -
?/? 9 c.1058C>T - Substitution Missense p.(Ser353Phe) Not determined - TNFRSF10B_00016 60 Non-small cell lung cancer (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1062G>A NHLBI Exome Sequencing Project Substitution Nonsense p.(Trp354*) Not determined A=1/G=10757 TNFRSF10B_00047 5 Non-small cell lung cancer (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1063G>A - Substitution Missense p.(Glu355Lys) - - TNFRSF10B_00017 42 Non-small cell lung cancer (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1063G>A - Substitution Missense p.(Glu355Lys) - - TNFRSF10B_00017 43 Gastric cancer Park et al., 2001 - - - This somatic variant appears to be associated with increased survival rates of cancer cells in gastric cancer. This patient exhibited a loss of hetrozygosity.
?/? 9 c.1087C>T - Substitution Missense p.(Leu363Phe) - - TNFRSF10B_00018 24 Non-small cell lung cancer (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1087C>T - Substitution Missense p.(Leu363Phe) - - TNFRSF10B_00018 44 Non-small cell lung cancer (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1087C>T - Substitution Missense p.(Leu363Phe) - - TNFRSF10B_00018 55 Non-small cell lung cancer (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1087C>T - Substitution Missense p.(Leu363Phe) - - TNFRSF10B_00018 42 Non-Hodgkin's lymphoma Lee et al., 2001 DNA PCR, SSCA - This somatic variant is associated with the loss of apoptotic function in non-Hodgkin's lymphoma.
?/? 9 c.1087C>T - Substitution Missense p.(Leu363Phe) - - TNFRSF10B_00018 99 Non-Hodgkin's lymphoma Lee et al., 2001 DNA PCR, SSCA - This somatic variant is associated with the loss of apoptotic function in non-Hodgkin's lymphoma.
?/? 9 c.1087C>T - Substitution Missense p.(Leu363Phe) - - TNFRSF10B_00018 33 Gastric cancer Park et al., 2001 - - - This somatic variant appears to be associated with increased survival rates of cancer cells in gastric cancer.
?/? 9 c.1099G>A - Substitution Missense p.(Glu367Lys) - - TNFRSF10B_00019 32 Non-small cell lung cancers (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1099G>A - Substitution Missense p.(Glu367Lys) - - TNFRSF10B_00019 79 Non-Hodgkin's lymphoma Lee et al., 2001 DNA SSCA - This somatic variant is associated with the loss of apoptotic function in non-Hodgkin's lymphoma.
?/? 9 c.1127C>T dbSNP Substitution Missense p.(Ala376Val) - - TNFRSF10B_00046 - - - - - -
?/? 9 c.1137G>C dbSNP Substitution Missense p.(Arg379Ser) - - TNFRSF10B_00045 - - - - - -
?/? 9 c.1150_1151dup - Duplication Frameshift p.(Met385Argfs*3) Not determined - TNFRSF10B_00010 - Pai et al., 1998 - - - This variant is associated with the loss of apoptotic function in head and neck cancer. The variant was originally reported as NM_147187.2:c.1063_1064dup
?/? 9 c.1151C>T NHLBI Exome Sequencing Project Substitution Missense p.(Thr384Met) Benign T=1/C=10757 TNFRSF10B_00044 - - - - - -
?/? 9 c.1196T>C - Substitution Missense p.(Val399Ala) - - TNFRSF10B_00025 - Pai et al., 1998 - - - This variant is associated with the loss of apoptotic function in head and neck cancer. The variant was originally reported as NM_147187.2:c.1109T>C
?/? 9 c.1223C>T dbSNP Substitution Missense p.(Thr408Met) Probably damaging - TNFRSF10B_00013 - - - - - -
?/? 9 c.1223C>T
    + c.95C>T, c.200C>T, c.572T>C
dbSNP Substitution Missense p.(Thr408Met) Probably damaging - TNFRSF10B_00013 Hepatocellular carcinoma Jeng and Hsu, 2002 DNA PCR - These variants do not appear to be significantly associated with the carcinogenesis of hepatocellular carcinomas.
?/? 9 c.1227G>A dbSNP Substitution Silent p.(=) Not determined - TNFRSF10B_00014 - - - - - -
?/? 9 c.1238T>A 1000 Genomes Substitution Missense p.(Leu413His) Benign - TNFRSF10B_00026 - - - - - -
?/? 9 c.1245G>T - Substitution Missense p.(Lys415Asn) - - TNFRSF10B_00020 40 Non-small cell lung cancers (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1247A>G - Substitution Missense p.(Gln416Arg) Not determined - TNFRSF10B_00023 6 Breast cancer Shin et al., 2002 DNA PCR, SSCA - This variant was found only in the metastatic breast cancer sample. Transfection of this mutation into 293 other cells showed significant defects in apoptotic function.
?/? 9 c.1247A>G - Substitution Missense p.(Gln416Arg) Not determined - TNFRSF10B_00023 8 Breast cancer Shin et al., 2002 DNA PCR, SSCA - This variant was found only in the metastatic breast cancer sample. Transfection of this mutation into 293 other cells showed significant defects in apoptotic function.
?/? 9 c.1247A>G - Substitution Missense p.(Gln416Arg) Not determined - TNFRSF10B_00023 1 Non-Hodgkin's Lymphoma Lee et al., 2001 DNA PCR, SSCA - This somatic variant is associated with the loss of apoptotic function in non-Hodgkin's lymphoma.
?/? 9 c.1276G>A - Substitution Missense p.(Gly426Arg) Not determined - TNFRSF10B_00056 9 Breast cancer Shin et al., 2002 DNA PCR, SSCA - This variant was found in both the metastatic and primary breast cancer samples. Transfection of this mutation into 293 other cells showed significant defects in apoptotic function.
?/? 9 c.1277G>A - Substitution Missense p.(Gly426Glu) Not determined - TNFRSF10B_00055 2 Breast cancer Shin et al., 2002 DNA PCR, SSCA - This variant was found in both the primary and metastatic breast cancer samples. Transfection of this mutation into 293 other cells showed significant defects in apoptotic function.
?/? 9 c.1288T>A NHLBI Exome Sequencing Project Substitution Missense p.(Tyr430Asn) Probably damaging A=1/T=10757 TNFRSF10B_00042 - - - - - -
?/? 9 c.1304C>T - Substitution Missense p.(Ala435Val) - - TNFRSF10B_00024 59 Non-Hodgkin's lymphoma Lee et al., 2001 DNA SSCA - This somatic variant is associated with the loss of apoptotic function in non-Hodgkin's lymphoma.
?/? 9 c.1306G>T - Substitution Missense p.(Asp436Tyr) - - TNFRSF10B_00021 21 Non-small cell lung cancers (NSCLC) Lee et al., 1999 DNA PCR, SSCA - This somatic variant appears to be associated with an increased life span of cancer cells in non-small cell lung cancers (NSCLC).
?/? 9 c.1306G>T - Substitution Missense p.(Asp436Tyr) - - TNFRSF10B_00021 38 Gastric cancer Park et al., 2001 - - - This somatic variant appears to be associated with increased survival rates of cancer cells in gastric cancer. This patient exhibited a loss of hetrozygosity.
?/? 9 c.*2314T>C 1000 Genomes Substitution UTR variant - Not determined - TNFRSF10B_00041 - - - - - -
?/? 9 c.*2416C>T dbSNP Substitution UTR variant - Not determined - TNFRSF10B_00040 - - - - - -
?/? 9 c.*2533T>A 1000 Genomes Substitution UTR variant - Not determined - TNFRSF10B_00039 - - - - - -
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Legend: [ TNFRSF10B full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Genomic Reference Sequence.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. External ID: Link(s) to variation databases. Type: Type of variant at DNA level. Mutation effect: Mutation effect at protein or RNA level. Protein: Variation at protein level. PolyPhen 2: PolyPhen 2 prediction of variant effect Frequency: Frequency if variant is non pathogenic. TNFRSF10B DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Patient ID: Internal reference to the patient. Disease: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Reference: Reference describing the patient, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. Frequency: Frequency of polymorphism.