LOVD - Variant listings for TNFRSF10A

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?/? dbSNP 1 c.32G>T Substitution Missense c.(Gly11Val) Unknown G=0.995/T=0.005 TNFRSF10A_00007 - - - - - -
?/? dbSNP 1 c.98C>T Substitution Missense p.(Thr33Ile) Unknown C=0.924/T=0.076 TNFRSF10A_00008 - - - - - -
?/? dbSNP 1 c.206G>C Substitution Missense p.(Arg69Pro) Unknown - TNFRSF10A_00009 - - - - - -
?/? dbSNP 1 c.227C>T Substitution Missense p.(Pro76Leu) Unknown - TNFRSF10A_00010 - - - - - -
?/? dbSNP 1 c.306+5G>C Substitution Splice site - Not determined G=0.995/C=0.005 TNFRSF10A_00011 - - - - - -
?/? dbSNP 2 c.314C>G Substitution Missense p.(Pro105Arg) Possibly damaging - TNFRSF10A_00012 - - - - - -
?/? 1000 Genomes dbSNP 2 c.328A>G Substitution Missense p.(Thr110Ala) Benign - TNFRSF10A_00013 - - - - - -
?/? dbSNP 2 c.341A>G Substitution Missense p.(His114Arg) Not determined A=0.999/G=0.001 TNFRSF10A_00055 - - - - - -
?/? dbSNP 2 c.370dup Duplication Frameshift p.(Glu124Glyfs*3) Not determined - TNFRSF10A_00006 - - - - - -
?/? NHLBI Exome Sequencing Project 2 c.397C>T Substitution Missense p.(Pro133Ser) Probably damaging T=2/C=10757 TNFRSF10A_00035 - - - - - -
?/? dbSNP 3 c.422A>G
    + c.626G>C, c.1322G>A
Substitution Missense p.(His141Arg) Possibly damaging - TNFRSF10A_00002 Lung cancer and Head and Neck Cancer Fisher et al., 2001 DNA DGGE, PCR - A number of samples from four different cancer types were sequenced for these polymorphisms. Variants 626G>C and 422A>G may be associated with an increase in predisposition to cancer types.
?/? dbSNP 3 c.422A>G
    + c.626G>C, c.683A>C, c.1322G>A
Substitution Missense p.(His141Arg) Possibly damaging - TNFRSF10A_00002 Lung cancer Ulybina et al., 2009 DNA PCR - 111 patients with lung cancer were sequenced for four different TRAIL-R1 variations. Polymorphism c.1322G>A was then sequenced for in a further 250 lung cancer patients. This polymorphism could be a modifier in patient risk to lung cancer.
?/? dbSNP 3 c.422A>G
    + c.626G>C, c.1322G>A
Substitution Missense p.(His141Arg) Possibly damaging - TNFRSF10A_00002 Ovarian cancer Horak et al., 2005 DNA PCR - 97 ovarian cancer samples were investigated along with controls. In all three polymorphisms no significant difference could be found between the normal and disease samples.
?/? 1000 Genomes 3 c.465C>A Substitution Silent p.(=) Not determined - TNFRSF10A_00014 - - - - - -
?/? 1000 Genomes 3 c.517+6G>C Substitution Splice site - Not determined - TNFRSF10A_00015 - - - - - -
?/? dbSNP 4 c.587G>A Substitution Missense p.(Arg196Gln) Not determined - TNFRSF10A_00036 - - - - - -
?/? NHLBI Exome Sequencing Project 4 c.613C>T Substitution Missense p.(Arg205Trp) Probably damaging T=1/C=10757 TNFRSF10A_00037 - - - - - -
?/? dbSNP 4 c.626G>C
    + c.422A>G, c.1322G>A
Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003 Lung cancer and Head and Neck Cancer Fisher et al., 2001 DNA DGGE, PCR - A number of samples from four different cancer types were sequenced for these polymorphisms. Variants 626G>C and 422A>G may be associated with an increase in predisposition to cancer types.
?/? dbSNP 4 c.626G>C
    + c.422A>G, c.683A>C, c.1322G>A
Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003 Lung cancer Ulybina et al., 2009 DNA PCR - 111 patients with lung cancer were sequenced for four different TRAIL-R1 variations. Polymorphism c.1322G>A was then sequenced for in a further 250 lung cancer patients. This polymorphism could be a modifier in patient risk to lung cancer.
?/? dbSNP 4 c.626G>C
    + c.683A>C
Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003 Breast Cancer and Ovarian cancer Dick et al., 2011 DNA PCR, SEQ - 557 female carriers of BRCA1 and 283 female carrier of BRCA2 mutations were sequenced for the presence of two TRAIL-R1 variants. Variant 683A>C appears to be associated with an increased risk of ovarian cancer. The two variants were found in the following frequencies: 622C>G:CC=266/CG=407/GG=167 683A>C:AA=522/AC=270/CC=48
?/? dbSNP 4 c.626G>C
    + c.683A>C
Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003 Colorectal cancer Frank et al., 2006 DNA PCR - 659 colorectal cancer patients were sequenced for these two variants. Variant 683G>C did not appear to be associated with an increased colorectal cancer risk. The 683C-626C haplotype conferred a 2.4 fold colorectal cancer risk.
?/? dbSNP 4 c.626G>C
    + c.683A>C
Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003 Breast cancer Frank et al., 2005 DNA PCR - Individually, variations 626C>G and 683A>C do not appear to be associated with an increase in breast cancer risk. However, the rare haplotype 626C-683C does appear to contribute to an increased risk to breast cancer.
?/? dbSNP 4 c.626G>C Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003 Bladder cancer Hazra et al., 2008 DNA PCR - 253 bladder cancer patients were sampled to investigate this polymorphism. This variant is associated with the risk of bladder cancer.
?/? dbSNP 4 c.626G>C
    + c.422A>G, c.1322G>A
Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003 Ovarian cancer Horak et al., 2005 DNA PCR - 97 ovarian cancer samples were investigated along with controls. In all three polymorphisms no significant difference could be found between the normal and disease samples.
?/? dbSNP 4 c.626G>C
    + c.683A>C, c.1322G>A
Substitution Missense p.(Arg209Thr) Benign - TNFRSF10A_00003 - Chen et al., 2009 - - - This paper was an evidence based meta-analysis looking at a total of nine studies. Overall, all three polymorphisms were found to be associated with cancer risk.
?/? dbSNP 5 c.633C>G Substitution Missense p.(Cys211Trp) Not determined - TNFRSF10A_00038 - - - - - -
?/? NHLBI Exome Sequencing Project 5 c.652G>T Substitution Missense p.(Val218Phe) Probably damaging T=1/G=10757 TNFRSF10A_00040 - - - - - -
?/? dbSNP 5 c.659A>G Substitution Missense p.(Asp220Gly) Not determined - TNFRSF10A_00039 - - - - - -
?/? dbSNP 5 c.683A>C
    + c.422A>G, c.626G>C, c.1322G>A
Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005 Lung cancer Ulybina et al., 2009 DNA PCR - 111 patients with lung cancer were sequenced for four different TRAIL-R1 variations. Polymorphism c.1322G>A was then sequenced for in a further 250 lung cancer patients. This polymorphism could be a modifier in patient risk to lung cancer.
?/? dbSNP 5 c.683A>C
    + c.626G>C
Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005 Breast Cancer and Ovarian cancer Dick et al., 2011 DNA PCR, SEQ - 557 female carriers of BRCA1 and 283 female carrier of BRCA2 mutations were sequenced for the presence of two TRAIL-R1 variants. Variant 683A>C appears to be associated with an increased risk of ovarian cancer. The two variants were found in the following frequencies: 622C>G:CC=266/CG=407/GG=167 683A>C:AA=522/AC=270/CC=48
?/? dbSNP 5 c.683A>C
    + c.626G>C
Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005 Colorectal cancer Frank et al., 2006 DNA PCR - 659 colorectal cancer patients were sequenced for these two variants. Variant 683G>C did not appear to be associated with an increased colorectal cancer risk. The 683C-626C haplotype conferred a 2.4 fold colorectal cancer risk.
?/? dbSNP 5 c.683A>C
    + c.626G>C
Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005 Breast cancer Frank et al., 2005 DNA PCR - Individually, variations 626C>G and 683A>C do not appear to be associated with an increase in breast cancer risk. However, the rare haplotype 626C-683C does appear to contribute to an increased risk to breast cancer.
?/? dbSNP 5 c.683A>C
    + c.626G>C, c.1322G>A
Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005 - Chen et al., 2009 - - - This paper was an evidence based meta-analysis looking at a total of nine studies. Overall, all three polymorphisms were found to be associated with cancer risk.
?/? dbSNP 5 c.683A>C Substitution Missense p.(Glu228Ala) Possibly damaging - TNFRSF10A_00005 - Wolf et al., 2006 DNA, RNA PCR, RT-PCR - 101 chronic lymphocytic leukemia, 32 mantle cell lymphoma, 43 prostate cancer, 40 head and neck squamous cell carcinoma and 179 bladder cancer samples were investigated for the presence of this variant. It appears that this variant is involved in the pathomechanism of a subset of these cancer types.
?/? dbSNP 6 c.736G>T Substitution Missense p.(Val246Leu) Not determined - TNFRSF10A_00041 - - - - - -
?/? NHLBI Exome Sequencing Project 8 c.837T>A Substitution Nonsense p.(Cys279*) Unknown A=2/T=10756 TNFRSF10A_00042 - - - - - -
?/? dbSNP 8 c.845G>A Substitution Nonsense p.(Arg282His) Not determined - TNFRSF10A_00043 - - - - - -
?/? dbSNP 8 c.854T>A Substitution Missense p.(Leu285His) Not determined - TNFRSF10A_00044 - - - - - -
?/? dbSNP 8 c.859C>T Substitution Nonsense p.(Arg287*) Not determined C=0.999/T=0.001 TNFRSF10A_00054 - - - - - -
?/? NHLBI Exome Sequencing Project 8 c.865C>T Substitution Missense p.(Pro289Ser) Probably damaging T=1/C=10757 TNFRSF10A_00053 - - - - - -
?/? dbSNP 8 c.889A>C Substitution Missense p.(Asn297His) Probably damaging A=0.981/C=0.019 TNFRSF10A_00016 - - - - - -
?/? 1000 Genomes 8 c.891C>T Substitution Silent p.(=) Not determined - TNFRSF10A_00017 - - - - - -
?/? dbSNP 8 c.906C>T Substitution Silent p.(=) Not determined C=0.998/T=0.002 TNFRSF10A_00018 - - - - - -
?/? dbSNP 8 c.956A>G Substitution Missense p.(Glu319Gly) Not determined - TNFRSF10A_00052 - - - - - -
?/? 1000 Genomes 8 c.959C>T Substitution Missense p.(Pro320Leu) Probably damaging - TNFRSF10A_00019 - - - - - -
?/? dbSNP 8 c.976G>A Substitution Missense p.(Val326Ile) Not determined - TNFRSF10A_00051 - - - - - -
?/? 1000 Genomes 8 c.999G>A Substitution Silent p.(=) Not determined - TNFRSF10A_00020 - - - - - -
?/? 1000 Genomes 9 c.1019C>T Substitution Missense p.(Pro340Leu) Probably damaging - TNFRSF10A_00021 - - - - - -
?/? dbSNP 9 c.1070G>A Substitution Missense p.(Gly357Asp) Not determined - TNFRSF10A_00050 - - - - - -
?/? 1000 Genomes 9 c.1086G>T Substitution Missense p.(Glu362Asp) Possibly damaging - TNFRSF10A_00022 - - - - - -
?/? dbSNP 9 c.1087+7G>A Substitution Splice site - Not determined G=0.983/A=0.017 TNFRSF10A_00023 - - - - - -
?/? - 9 c.1117A>G Substitution Missense p.(Asn373Asp) Not determined - TNFRSF10A_00057 22 Breast cancer Shin et al., 2001 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.
?/? - 10 c.1127C>T Substitution Missense p.(Pro376Leu) Not determined - TNFRSF10A_00004 9 Non-Hodgkin's lymphoma Lee et al., 2001 DNA PCR, SSCA - This variant may cause resistance against TRAIL induced apoptosis.
?/? - 10 c.1127C>T Substitution Missense p.(Pro376Leu) Not determined - TNFRSF10A_00004 16 Breast cancer Shin et al., 2001 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.
?/? NHLBI Exome Sequencing Project 10 c.1135T>C Substitution Missense p.(Ser379Pro) Probably damaging C=1/T=10755 TNFRSF10A_00049 - - - - - -
?/? - 10 c.1205C>T Substitution Missense p.(Ala402Val) Not determined - TNFRSF10A_00056 11 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.
?/? 1000 Genomes 10 c.1209C>T Substitution Silent p.(=) Not determined - TNFRSF10A_00024 - - - - - -
?/? 1000 Genomes 10 c.1232T>C Substitution Missense p.(Met411Thr) Probably damaging - TNFRSF10A_00025 - - - - - -
?/? 1000 Genomes 10 c.1245G>T Substitution Missense p.(Trp415Cys) Probably damaging - TNFRSF10A_00026 - - - - - -
?/? dbSNP 10 c.1271C>T Substitution Missense p.(Ser424Leu) Not determined - TNFRSF10A_00048 - - - - - -
?/? NHLBI Exome Sequencing Project 10 c.1283T>C Substitution Missense p.(Leu428Pro) Probably damaging C=2/T=10756 TNFRSF10A_00047 - - - - - -
?/? dbSNP 10 c.1288G>A Substitution Missense p.(Asp430Asn) Probably damaging - TNFRSF10A_00027 - - - - - -
?/? dbSNP 10 c.1300A>C Substitution Silent p.(=) Not determined - TNFRSF10A_00028 - - - - - -
?/? dbSNP 10 c.1322G>A Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Ovarian cancer Kim et al., 2000 DNA, RNA PCR, RT-PCR, SEQ, Western - This variant appears to contribute to an increased resistance to TRAIL binding. All ovarian cancer cell samples tested in this instance were heterozygous for this variant. This variant was also found in 2 normal samples (20%), again heterozygous.
?/? dbSNP 10 c.1322G>A Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Bladder cancer Kim et al., 2000 DNA, RNA PCR, RT-PCR, SEQ - This variant appears to contribute to an increased resistance to TRAIL binding. This variant was also found in 2 normal samples (20%).
?/? dbSNP 10 c.1322G>A
    + c.422A>G, c.626G>C
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Lung cancer and Head and Neck Cancer Fisher et al., 2001 DNA DGGE, PCR - A number of samples from four different cancer types were sequenced for these polymorphisms. Variants 626G>C and 422A>G may be associated with an increase in predisposition to cancer types.
?/? dbSNP 10 c.1322G>A
    + c.422A>G, c.626G>C, c.683A>C
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Lung cancer Ulybina et al., 2009 DNA PCR - 111 patients with lung cancer were sequenced for four different TRAIL-R1 variations. Polymorphism c.1322G>A was then sequenced for in a further 250 lung cancer patients. This polymorphism could be a modifier in patient risk to lung cancer.
?/? dbSNP 10 c.1322G>A
    + c.422A>G, c.626G>C
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 Ovarian cancer Horak et al., 2005 DNA PCR - 97 ovarian cancer samples were investigated along with controls. In all three polymorphisms no significant difference could be found between the normal and disease samples.
?/? dbSNP 10 c.1322G>A
    + c.626G>C, c.683A>C
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_00001 - Chen et al., 2009 - - - This paper was an evidence based meta-analysis looking at a total of nine studies. Overall, all three polymorphisms were found to be associated with cancer risk.
?/? dbSNP 10 c.1322G>A
    + TNFRSF10B (2)
Substitution Missense p.(Arg441Lys) Benign - TNFRSF10A_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.
?/? dbSNP 10 c.1341C>G Substitution Silent p.(=) Not determined C=0.998/G=0.002 TNFRSF10A_00030 - - - - - -
?/? NHLBI Exome Sequencing Project 10 c.1384G>A Substitution Missense p.(Gly462Ser) Probably damaging A=1/G=10757 TNFRSF10A_00046 - - - - - -
?/? dbSNP 10 c.1406G>T Substitution Stop codon mutated p.(*469Leuext*15) Not determined G=0.999/T=0.001 TNFRSF10A_00045 - - - - - -
?/? 1000 Genomes 10 c.*59T>G Substitution UTR variant - Not determined - TNFRSF10A_00034 - - - - - -
?/? dbSNP 10 c.*70del Deletion UTR variant - Not determined - TNFRSF10A_00033 - - - - - -
?/? dbSNP 10 c.*70dup Duplication UTR variant - Not determined - TNFRSF10A_00031 - - - - - -
?/? 1000 Genomes 10 c.*197T>G Substitution UTR variant - Not determined - TNFRSF10A_00032 - - - - - -
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Legend: [ TNFRSF10A 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. External ID: Link(s) to variation databases. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. 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. TNFRSF10A 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.