All variants in the TNFRSF10A gene

Death Receptor Database (DRdb).

Information The variants shown are described using the NM_003844.3 transcript reference sequence.

77 entries on 1 page. Showing entries 1 - 77.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predict-BioInf     

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.32G>T r.(?) c.(Gly11Val) - - VUS g.23082543C>A g.23225030C>A - - TNFRSF10A_000007 - - - rs34737614 Germline - G=0.995/T=0.005 - - - Zoe Baily
?/? 1 c.98C>T r.(?) p.(Thr33Ile) - - VUS g.23082477G>A g.23224964G>A - - TNFRSF10A_000008 - - - rs20577 Germline - C=0.924/T=0.076 - - - Zoe Baily
?/? 1 c.206G>C r.(?) p.(Arg69Pro) - - VUS g.23082369C>G g.23224856C>G - - TNFRSF10A_000009 - - - rs61756236 Germline - - - - - Zoe Baily
?/? 1 c.227C>T r.(?) p.(Pro76Leu) - - VUS g.23082348G>A g.23224835G>A - - TNFRSF10A_000010 - - - rs113149248 Germline - - - - - Zoe Baily
?/? 1i c.306+5G>C r.spl? p.(?) - - VUS g.23082264C>G g.23224751C>G - - TNFRSF10A_000011 Splice site - - rs34601117 Germline - G=0.995/C=0.005 - - - Zoe Baily
?/? 2 c.314C>G r.(?) p.(Pro105Arg) Polyphen: possibly damaging - VUS g.23069718G>C g.23212205G>C - - TNFRSF10A_000012 - - - rs11986840 Germline - - - - - Zoe Baily
?/? 2 c.328A>G r.(?) p.(Thr110Ala) Polyphen: benign - VUS g.23069704T>C g.23212191T>C - - TNFRSF10A_000013 - - - rs188027515 Germline - - - - - Zoe Baily
?/? 2 c.341A>G r.(?) p.(His114Arg) - - VUS g.23069691T>C g.23212178T>C - - TNFRSF10A_000055 - - - rs144035000 Germline - A=0.999/G=0.001 - - - Zoe Baily
?/? 2 c.370dup r.(?) p.(Glu124Glyfs*3) - - VUS g.23069664dup g.23212151dup - - TNFRSF10A_000006 - - - rs34224203 Germline - - - - - Zoe Baily
?/? 2 c.397C>T r.(?) p.(Pro133Ser) Polyphen: probably damaging - VUS g.23069635G>A g.23212122G>A - - TNFRSF10A_000035 - Exome Variant Server - - Germline - T=2/C=10757 - - - Zoe Baily
?/? 3 c.422A>G r.(?) p.(His141Arg) Polyphen: possibly damaging - VUS g.23060256T>C g.23202743T>C - - TNFRSF10A_000002 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. PubMed: Fisher 2001 - rs6557634 Unknown - - - - - Zoe Baily
?/? 3 c.422A>G r.(?) p.(His141Arg) Polyphen: possibly damaging - VUS g.23060256T>C g.23202743T>C - - TNFRSF10A_000002 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. PubMed: Ulybina 2009 - rs6557634 Unknown - - - - - Zoe Baily
?/? 3 c.422A>G r.(?) p.(His141Arg) Polyphen: possibly damaging - VUS g.23060256T>C g.23202743T>C - - TNFRSF10A_000002 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. {PMID8:Hazra 2008:1264916} - rs6557634 Unknown - - - - - Zoe Baily
?/? 3 c.465C>A r.(?) p.(=) - - VUS g.23060213G>T g.23202700G>T - - TNFRSF10A_000014 - 1000 Genomes 1KG_8_23060213 {dbSNP:149012704} - rs149012704 Germline - - - - - Zoe Baily
?/? 3i c.517+6G>C r.(?) p.(=) - - VUS g.23060155C>G g.23202642C>G - - TNFRSF10A_000015 Splice site 1000 Genomes 1KG_8_23060155, {dbSNP:182707081} - - Germline - - - - - Zoe Baily
?/? 4 c.587G>A r.(?) p.(Arg196Gln) - - VUS g.23059363C>T g.23201850C>T - - TNFRSF10A_000036 - - - rs150096329 Germline - - - - - Zoe Baily
?/? 4 c.613C>T r.(?) p.(Arg205Trp) Polyphen: probably damaging - VUS g.23059337G>A g.23201824G>A - - TNFRSF10A_000037 - Exome Variant Server - - Germline - T=1/C=10757 - - - Zoe Baily
?/? 4 c.626G>C r.(?) p.(Arg209Thr) Polyphen: benign - VUS g.23059324C>G g.23201811C>G - - TNFRSF10A_000003 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. PubMed: Fisher 2001 - rs20575 Unknown - - - - - Zoe Baily
?/? 4 c.626G>C r.(?) p.(Arg209Thr) Polyphen: benign - VUS g.23059324C>G g.23201811C>G - - TNFRSF10A_000003 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. PubMed: Ulybina 2009 - rs20575 Unknown - - - - - Zoe Baily
?/? 4 c.626G>C r.(?) p.(Arg209Thr) Polyphen: benign - VUS g.23059324C>G g.23201811C>G - - TNFRSF10A_000003 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 PubMed: Dick 2011 - rs20575 Unknown - - - - - Zoe Baily
?/? 4 c.626G>C r.(?) p.(Arg209Thr) Polyphen: benign - VUS g.23059324C>G g.23201811C>G - - TNFRSF10A_000003 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. PubMed: Frank 2006 - rs20575 Unknown - - - - - Zoe Baily
?/? 4 c.626G>C r.(?) p.(Arg209Thr) Polyphen: benign - VUS g.23059324C>G g.23201811C>G - - TNFRSF10A_000003 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. PubMed: Frank 2005 - rs20575 Unknown - - - - - Zoe Baily
?/? 4 c.626G>C r.(?) p.(Arg209Thr) Polyphen: benign - VUS g.23059324C>G g.23201811C>G - - TNFRSF10A_000003 253 bladder cancer patients were sampled to investigate this polymorphism. This variant is associated with the risk of bladder cancer. {PMID8:Hazra 2008:1264916} - rs20575 Unknown - - - - - Zoe Baily
?/? 4 c.626G>C r.(?) p.(Arg209Thr) Polyphen: benign - VUS g.23059324C>G g.23201811C>G - - TNFRSF10A_000003 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. {PMID8:Hazra 2008:1264916} - rs20575 Unknown - - - - - Zoe Baily
?/? 4 c.626G>C r.(?) p.(Arg209Thr) Polyphen: benign - VUS g.23059324C>G g.23201811C>G - - TNFRSF10A_000003 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. PubMed: Chen 2009 - rs20575 Unknown - - - - - Zoe Baily
?/? 5 c.633C>G r.(?) p.(Cys211Trp) - - VUS g.23058270G>C g.23200757G>C - - TNFRSF10A_000038 - - - rs144093718 Germline - - - - - Zoe Baily
?/? 5 c.652G>T r.(?) p.(Val218Phe) Polyphen: probably damaging - VUS g.23058251C>A g.23200738C>A - - TNFRSF10A_000040 - Exome Variant Server - - Germline - T=1/G=10757 - - - Zoe Baily
?/? 5 c.659A>G r.(?) p.(Asp220Gly) - - VUS g.23058244T>C g.23200731T>C - - TNFRSF10A_000039 - - - rs139265071 Germline - - - - - Zoe Baily
?/? 5 c.683A>C r.(?) p.(Glu228Ala) Polyphen: possibly damaging - VUS g.23058220T>G g.23200707T>G - - TNFRSF10A_000005 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. PubMed: Ulybina 2009 - rs20576 Unknown - - - - - Zoe Baily
?/? 5 c.683A>C r.(?) p.(Glu228Ala) Polyphen: possibly damaging - VUS g.23058220T>G g.23200707T>G - - TNFRSF10A_000005 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 PubMed: Dick 2011 - rs20576 Unknown - - - - - Zoe Baily
?/? 5 c.683A>C r.(?) p.(Glu228Ala) Polyphen: possibly damaging - VUS g.23058220T>G g.23200707T>G - - TNFRSF10A_000005 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. PubMed: Frank 2006 - rs20576 Unknown - - - - - Zoe Baily
?/? 5 c.683A>C r.(?) p.(Glu228Ala) Polyphen: possibly damaging - VUS g.23058220T>G g.23200707T>G - - TNFRSF10A_000005 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. PubMed: Frank 2005 - rs20576 Unknown - - - - - Zoe Baily
?/? 5 c.683A>C r.(?) p.(Glu228Ala) Polyphen: possibly damaging - VUS g.23058220T>G g.23200707T>G - - TNFRSF10A_000005 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. PubMed: Chen 2009 - rs20576 Unknown - - - - - Zoe Baily
?/? 5 c.683A>C r.(?) p.(Glu228Ala) Polyphen: possibly damaging - VUS g.23058220T>G g.23200707T>G - - TNFRSF10A_000005 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. PubMed: Wolf 2006 - rs20576 Unknown - - - - - Zoe Baily
?/? 6 c.736G>T r.(?) p.(Val246Leu) - - VUS g.23058081C>A g.23200568C>A - - TNFRSF10A_000041 - - - rs142205454 Germline - - - - - Zoe Baily
?/? 8 c.837T>A r.(?) p.(Cys279*) - - VUS g.23056956A>T g.23199443A>T - - TNFRSF10A_000042 - Exome Variant Server - - Germline - A=2/T=10756 - - - Zoe Baily
?/? 8 c.845G>A r.(?) p.(Arg282His) - - VUS g.23056948C>T g.23199435C>T - - TNFRSF10A_000043 - - - rs144670447 Germline - - - - - Zoe Baily
?/? 8 c.854T>A r.(?) p.(Leu285His) - - VUS g.23056939A>T g.23199426A>T - - TNFRSF10A_000044 - - - rs143030810 Germline - - - - - Zoe Baily
?/? 8 c.859C>T r.(?) p.(Arg287*) - - VUS g.23056934G>A g.23199421G>A - - TNFRSF10A_000054 - - - rs140805563 Germline - C=0.999/T=0.001 - - - Zoe Baily
?/? 8 c.865C>T r.(?) p.(Pro289Ser) Polyphen: probably damaging - VUS g.23056928G>A g.23199415G>A - - TNFRSF10A_000053 - Exome Variant Server - - Germline - T=1/C=10757 - - - Zoe Baily
?/? 8 c.889A>C r.(?) p.(Asn297His) Polyphen: probably damaging - VUS g.23056904T>G g.23199391T>G - - TNFRSF10A_000016 - - - rs17088980 Germline - A=0.981/C=0.019 - - - Zoe Baily
?/? 8 c.891C>T r.(?) p.(=) - - VUS g.23056902G>A g.23199389G>A - - TNFRSF10A_000017 - 1000 Genomes 1KG_8_23056902 - - Germline - - - - - Zoe Baily
?/? 8 c.906C>T r.(?) p.(=) - - VUS g.23056887G>A g.23199374G>A - - TNFRSF10A_000018 - - - rs2230230 Germline - C=0.998/T=0.002 - - - Zoe Baily
?/? 8 c.956A>G r.(?) p.(Glu319Gly) - - VUS g.23056837T>C g.23199324T>C - - TNFRSF10A_000052 - - - rs143024890 Germline - - - - - Zoe Baily
?/? 8 c.959C>T r.(?) p.(Pro320Leu) Polyphen: probably damaging - VUS g.23056834G>A g.23199321G>A - - TNFRSF10A_000019 - 1000 Genomes 1KG_8_23056834 - - Germline - - - - - Zoe Baily
?/? 8 c.976G>A r.(?) p.(Val326Ile) - - VUS g.23056817C>T g.23199304C>T - - TNFRSF10A_000051 - - - rs140844059 Germline - - - - - Zoe Baily
?/? 8 c.999G>A r.(?) p.(=) - - VUS g.23056794C>T g.23199281C>T - - TNFRSF10A_000020 - 1000 Genomes 1KG_8_23056794 - - Germline - - - - - Zoe Baily
?/? 9 c.1019C>T r.(?) p.(Pro340Leu) Polyphen: probably damaging - VUS g.23054713G>A g.23197200G>A - - TNFRSF10A_000021 - 1000 Genomes 1KG_8_23054713 - - Germline - - - - - Zoe Baily
?/? 9 c.1070G>A r.(?) p.(Gly357Asp) - - VUS g.23054662C>T g.23197149C>T - - TNFRSF10A_000050 - - - rs145301693 Germline - - - - - Zoe Baily
?/? 9 c.1086G>T r.(?) p.(Glu362Asp) Polyphen: possibly damaging - VUS g.23054646C>A g.23197133C>A - - TNFRSF10A_000022 - 1000 Genomes 1KG_8_23054646 - - Germline - - - - - Zoe Baily
?/? 9i c.1087+7G>A r.(?) p.(=) - - VUS g.23054638C>T g.23197125C>T - - TNFRSF10A_000023 Splice site - - rs75047372 Germline - G=0.983/A=0.017 - - - Zoe Baily
?/? 10 c.1117A>G r.(?) p.(Asn373Asp) - - VUS g.23049497T>C g.23191984T>C - - TNFRSF10A_000057 expression cloning into 293 other cells showed significant defects in apoptotic function; variant found in both the primary and metastatic breast cancer samples PubMed: Shin 2001 - - Unknown - - - - - Zoe Baily
?/? 10 c.1127C>T r.(?) p.(Pro376Leu) - - VUS g.23049487G>A g.23191974G>A - - TNFRSF10A_000004 variant may cause resistance against TRAIL induced apoptosis PubMed: Lee 2001 - - Unknown - - - - - Zoe Baily
?/? 10 c.1127C>T r.(?) p.(Pro376Leu) - - VUS g.23049487G>A g.23191974G>A - - TNFRSF10A_000004 expression cloning into 293 other cells showed significant defects in apoptotic function; variant found only in the metastatic breast cancer samples PubMed: Shin 2001 - - Unknown - - - - - Zoe Baily
?/? 10 c.1135T>C r.(?) p.(Ser379Pro) Polyphen: probably damaging - VUS g.23049479A>G g.23191966A>G - - TNFRSF10A_000049 - Exome Variant Server - - Germline - C=1/T=10755 - - - Zoe Baily
?/? 10 c.1205C>T r.(?) p.(Ala402Val) - - VUS g.23049409G>A g.23191896G>A - - TNFRSF10A_000056 expression cloning into 293 other cells showed significant defects in apoptotic function; variant found only in the metastatic breast cancer samples PubMed: Shin 2002 - - Unknown - - - - - Zoe Baily
?/? 10 c.1209C>T r.(?) p.(=) - - VUS g.23049405G>A g.23191892G>A - - TNFRSF10A_000024 - 1000 Genomes 1KG_8_23049405 - - Germline - - - - - Zoe Baily
?/? 10 c.1232T>C r.(?) p.(Met411Thr) Polyphen: probably damaging - VUS g.23049382A>G g.23191869A>G - - TNFRSF10A_000025 - 1000 Genomes 1KG_8_23049382 - - Germline - - - - - Zoe Baily
?/? 10 c.1245G>T r.(?) p.(Trp415Cys) Polyphen: probably damaging - VUS g.23049369C>A g.23191856C>A - - TNFRSF10A_000026 - 1000 Genomes 1KG_8_23049369 - - Germline - - - - - Zoe Baily
?/? 10 c.1271C>T r.(?) p.(Ser424Leu) - - VUS g.23049343G>A g.23191830G>A - - TNFRSF10A_000048 - - - rs145301145 Germline - - - - - Zoe Baily
?/? 10 c.1283T>C r.(?) p.(Leu428Pro) Polyphen: probably damaging - VUS g.23049331A>G g.23191818A>G - - TNFRSF10A_000047 - Exome Variant Server - - Germline - C=2/T=10756 - - - Zoe Baily
?/? 10 c.1288G>A r.(?) p.(Asp430Asn) Polyphen: probably damaging - VUS g.23049326C>T g.23191813C>T - - TNFRSF10A_000027 - - - rs113162538 Germline - - - - - Zoe Baily
?/? 10 c.1300A>C r.(?) p.(=) - - VUS g.23049314T>G g.23191801T>G - - TNFRSF10A_000028 - - - rs61761316 Germline - - - - - Zoe Baily
?/? 10 c.1322G>A r.(?) p.(Arg441Lys) Polyphen: benign - VUS g.23049292C>T g.23191779C>T - - TNFRSF10A_000001 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. PubMed: Kim 2000 - rs2230229 Unknown - - - - - Zoe Baily
?/? 10 c.1322G>A r.(?) p.(Arg441Lys) Polyphen: benign - VUS g.23049292C>T g.23191779C>T - - TNFRSF10A_000001 This variant appears to contribute to an increased resistance to TRAIL binding. This variant was also found in 2 normal samples (20%). PubMed: Kim 2000 - rs2230229 Unknown - - - - - Zoe Baily
?/? 10 c.1322G>A r.(?) p.(Arg441Lys) Polyphen: benign - VUS g.23049292C>T g.23191779C>T - - TNFRSF10A_000001 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. PubMed: Fisher 2001 - rs2230229 Unknown - - - - - Zoe Baily
?/? 10 c.1322G>A r.(?) p.(Arg441Lys) Polyphen: benign - VUS g.23049292C>T g.23191779C>T - - TNFRSF10A_000001 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. PubMed: Ulybina 2009 - rs2230229 Unknown - - - - - Zoe Baily
?/? 10 c.1322G>A r.(?) p.(Arg441Lys) Polyphen: benign - VUS g.23049292C>T g.23191779C>T - - TNFRSF10A_000001 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. {PMID8:Hazra 2008:1264916} - rs2230229 Unknown - - - - - Zoe Baily
?/? 10 c.1322G>A r.(?) p.(Arg441Lys) Polyphen: benign - VUS g.23049292C>T g.23191779C>T - - TNFRSF10A_000001 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. PubMed: Chen 2009 - rs2230229 Unknown - - - - - Zoe Baily
?/? 10 c.1322G>A r.(?) p.(Arg441Lys) Polyphen: benign - VUS g.23049292C>T g.23191779C>T - - TNFRSF10A_000001 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. PubMed: Seitz 2002 - rs2230229 Unknown - - - - - Zoe Baily
?/? 10 c.1341C>G r.(?) p.(=) - - VUS g.23049273G>C g.23191760G>C - - TNFRSF10A_000030 - - - rs77368365 Germline - C=0.998/G=0.002 - - - Zoe Baily
?/? 10 c.1384G>A r.(?) p.(Gly462Ser) Polyphen: probably damaging - VUS g.23049230C>T g.23191717C>T - - TNFRSF10A_000046 - Exome Variant Server - - Germline - A=1/G=10757 - - - Zoe Baily
?/? 10 c.1406G>T r.(?) p.(*469Leuext*15) - - VUS g.23049208C>A g.23191695C>A - - TNFRSF10A_000045 Stop codon mutated - - rs144773234 Germline - G=0.999/T=0.001 - - - Zoe Baily
?/? 10 c.*59T>G r.(?) p.(=) - - VUS g.23049148A>C g.23191635A>C - - TNFRSF10A_000034 UTR variant 1000 Genomes 1KG_8_23049148 - - Germline - - - - - Zoe Baily
?/? 10 c.*70del r.(?) p.(=) - - VUS g.23049150del g.23191637del - - TNFRSF10A_000033 UTR variant - - rs35742189 Germline - - - - - Zoe Baily
?/? 10 c.*70dup r.(?) p.(=) - - VUS g.23049150dup g.23191637dup - - TNFRSF10A_000031 UTR variant - - rs34127830 Germline - - - - - Zoe Baily
?/? 10 c.*197T>G r.(?) p.(=) - - VUS g.23049010A>C g.23191497A>C - - TNFRSF10A_000032 UTR variant 1000 Genomes 1KG_8_23049010 - - Germline - - - - - Zoe Baily
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