TSC2 c.5227C>T ;(p.R1743W)

Variant ID: 16-2138294-C-T

NM_000548.3(TSC2):c.5227C>T;(p.R1743W)

This variant was identified in 23 publications

View GRCh38 version.




Publications:


An integrated genetic analysis of epileptogenic brain malformed lesions.

Acta Neuropathologica Communications
Fujita, Atsushi A; Kato, Mitsuhiro M; Sugano, Hidenori H; Iimura, Yasushi Y; Suzuki, Hiroharu H; Tohyama, Jun J; Fukuda, Masafumi M; Ito, Yosuke Y; Baba, Shimpei S; Okanishi, Tohru T; Enoki, Hideo H; Fujimoto, Ayataka A; Yamamoto, Akiyo A; Kawamura, Kentaro K; Kato, Shinsuke S; Honda, Ryoko R; Ono, Tomonori T; Shiraishi, Hideaki H; Egawa, Kiyoshi K; Shirai, Kentaro K; Yamamoto, Shinji S; Hayakawa, Itaru I; Kawawaki, Hisashi H; Saida, Ken K; Tsuchida, Naomi N; Uchiyama, Yuri Y; Hamanaka, Kohei K; Miyatake, Satoko S; Mizuguchi, Takeshi T; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Miyake, Noriko N; Kakita, Akiyoshi A; Matsumoto, Naomichi N
Publication Date: 2023-03-02

Variant appearance in text: TSC2: Arg1743Trp
PubMed Link: 36864519
Variant Present in the following documents:
  • Main text
  • 40478_2023_Article_1532.pdf
  • 40478_2023_1532_MOESM1_ESM.pdf
View BVdb publication page



CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.

International Journal Of Molecular Sciences
Mayo, Sonia S; Gómez-Manjón, Irene I; Fernández-Martínez, Francisco Javier FJ; Camacho, Ana A; Martínez, Francisco F; Benito-León, Julián J
Publication Date: 2022-04-28

Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
PubMed Link: 35563270
Variant Present in the following documents:
  • ijms-23-04879.pdf
View BVdb publication page



Noninvasive prenatal diagnosis based on cell-free DNA for tuberous sclerosis: A pilot study.

Molecular Genetics & Genomic Medicine
Yang, Xiao-Yan XY; Meng, Yan Y; Wang, Yang-Yang YY; Lu, Yan-Ping YP; Wang, Qiu-Hong QH; You, Yan-Qin YQ; Xie, Xiao-Xiao XX; Bai, Ling L; Fang, Nan N; Zou, Li-Ping LP
Publication Date: 2022-07

Variant appearance in text: TSC2: 5227C>T
PubMed Link: 35429229
Variant Present in the following documents:
  • MGG3-10-e1952.pdf
View BVdb publication page



Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation
Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ
Publication Date: 2022-05-16

Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
PubMed Link: 35358092
Variant Present in the following documents:
  • jci-132-155858-s186.xlsx, sheet 1
View BVdb publication page



Multilocus Inherited Neoplasia Allele Syndrome (MINAS): an update.

European Journal Of Human Genetics : Ejhg
McGuigan, Anthony A; Whitworth, James J; Andreou, Avgi A; Hearn, Timothy T; , ; Tischkowitz, Marc M; Maher, Eamonn R ER
Publication Date: 2022-03

Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
PubMed Link: 34983940
Variant Present in the following documents:
  • 41431_2021_1013_MOESM1_ESM.pdf
View BVdb publication page



Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology
Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G
Publication Date: 2021-01-22

Variant appearance in text: TSC2: R1743W
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia.

Cell Reports
Di Nardo, Alessia A; Lenoël, Isadora I; Winden, Kellen D KD; Rühmkorf, Alina A; Modi, Meera E ME; Barrett, Lee L; Ercan-Herbst, Ebru E; Venugopal, Pooja P; Behne, Robert R; Lopes, Carla A M CAM; Kleiman, Robin J RJ; Bettencourt-Dias, Mónica M; Sahin, Mustafa M
Publication Date: 2020-06-23

Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
PubMed Link: 32579942
Variant Present in the following documents:
  • NIHMS1607413-supplement-3.xlsx, sheet 1
View BVdb publication page



Mutational analysis of TSC1 and TSC2 in Danish patients with tuberous sclerosis complex.

Scientific Reports
Rosengren, Thomas T; Nanhoe, Santoesha S; de Almeida, Luis Gustavo Dufner LGD; Schönewolf-Greulich, Bitten B; Larsen, Lasse Jonsgaard LJ; Hey, Caroline Amalie Brunbjerg CAB; Dunø, Morten M; Ek, Jakob J; Risom, Lotte L; Nellist, Mark M; Møller, Lisbeth Birk LB
Publication Date: 2020-06-18

Variant appearance in text: TSC2: Arg1743Trp
PubMed Link: 32555378
Variant Present in the following documents:
  • Main text
  • 41598_2020_66588_MOESM1_ESM.pdf
  • 41598_2020_Article_66588.pdf
View BVdb publication page



Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.

Journal Of Medical Genetics
Dong, Xinran X; Liu, Bo B; Yang, Lin L; Wang, Huijun H; Wu, Bingbing B; Liu, Renchao R; Chen, Hongbo H; Chen, Xiang X; Yu, Sha S; Chen, Bin B; Wang, Sujuan S; Xu, Xiu X; Zhou, Wenhao W; Lu, Yulan Y
Publication Date: 2020-08

Variant appearance in text: TSC2: 5227C>T; R1743W
PubMed Link: 32005694
Variant Present in the following documents:
  • jmedgenet-2019-106377supp005.pdf
View BVdb publication page



Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12

Variant appearance in text: TSC2: 5227C>T
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
View BVdb publication page



Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy.

Scientific Reports
Ni, Jianxin J; Yan, Fengqi F; Qin, Weijun W; Yu, Lei L; Zhang, Geng G; Liu, Fei F; Yang, Xiaojian X; Yang, Bo B; Hao, Chunlin C; Wang, Teng T; Liu, Pengfei P; Yuan, Jianlin J; Wu, Guojun G
Publication Date: 2019-10-04

Variant appearance in text: TSC2: Arg1743Trp
PubMed Link: 31586081
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_49814.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: TSC2: 5227C>T; R1743W
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J
Publication Date: 2019-09

Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
PubMed Link: 30787465
Variant Present in the following documents:
  • NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6
View BVdb publication page



Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Journal Of Medical Genetics
Stradella, Agostina A; Del Valle, Jesús J; Rofes, Paula P; Feliubadaló, Lídia L; Grau Garces, Èlia È; Velasco, Àngela À; González, Sara S; Vargas, Gardenia G; Izquierdo, Ángel Á; Campos, Olga O; Tornero, Eva E; Navarro, Matilde M; Balmaña-Gelpi, Judith J; Capellá, Gabriel G; Pineda, Marta M; Brunet, Joan J; Lázaro, Conxi C
Publication Date: 2019-08

Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
PubMed Link: 30580288
Variant Present in the following documents:
  • Main text
  • jmedgenet-2018-105700.pdf
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: TSC2: R1743W
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Comparison of Color Fundus Photography, Infrared Fundus Photography, and Optical Coherence Tomography in Detecting Retinal Hamartoma in Patients with Tuberous Sclerosis Complex.

Chinese Medical Journal
Bai, Da-Yong DY; Wang, Xu X; Zhao, Jun-Yang JY; Li, Li L; Gao, Jun J; Wang, Ning-Li NL
Publication Date: 2016-05-20

Variant appearance in text: TSC2: 5227C>T
PubMed Link: 27174333
Variant Present in the following documents:
  • CMJ-129-1229.pdf
View BVdb publication page



Response to everolimus is seen in TSC-associated SEGAs and angiomyolipomas independent of mutation type and site in TSC1 and TSC2.

European Journal Of Human Genetics : Ejhg
Kwiatkowski, David J DJ; Palmer, Michael R MR; Jozwiak, Sergiusz S; Bissler, John J; Franz, David D; Segal, Scott S; Chen, David D; Sampson, Julian R JR
Publication Date: 2015-12

Variant appearance in text: TSC2: 5227C>T; Arg1743Trp
PubMed Link: 25782670
Variant Present in the following documents:
  • ejhg201547x2.xls, sheet 1
  • ejhg201547x1.xls, sheet 1
View BVdb publication page



A tuberous sclerosis complex signalling node at the peroxisome regulates mTORC1 and autophagy in response to ROS.

Nature Cell Biology
Zhang, Jiangwei J; Kim, Jinhee J; Alexander, Angela A; Cai, Shengli S; Tripathi, Durga Nand DN; Dere, Ruhee R; Tee, Andrew R AR; Tait-Mulder, Jacqueline J; Di Nardo, Alessia A; Han, Juliette M JM; Kwiatkowski, Erica E; Dunlop, Elaine A EA; Dodd, Kayleigh M KM; Folkerth, Rebecca D RD; Faust, Phyllis L PL; Kastan, Michael B MB; Sahin, Mustafa M; Walker, Cheryl Lyn CL
Publication Date: 2013-10

Variant appearance in text: TSC2: R1743W
PubMed Link: 23955302
Variant Present in the following documents:
  • Main text
  • nihms504554.pdf
View BVdb publication page



Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
Publication Date: 2013-03-20

Variant appearance in text: TSC2: R1743W
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



A reliable cell-based assay for testing unclassified TSC2 gene variants.

European Journal Of Human Genetics : Ejhg
Coevoets, Ricardo R; Arican, Sermin S; Hoogeveen-Westerveld, Marianne M; Simons, Erik E; van den Ouweland, Ans A; Halley, Dicky D; Nellist, Mark M
Publication Date: 2009-03

Variant appearance in text: TSC2: R1743W
PubMed Link: 18854862
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular and clinical analyses of 84 patients with tuberous sclerosis complex.

Bmc Medical Genetics
Hung, Chia-Cheng CC; Su, Yi-Ning YN; Chien, Shu-Chin SC; Liou, Horng-Huei HH; Chen, Chih-Chuan CC; Chen, Pau-Chung PC; Hsieh, Chia-Jung CJ; Chen, Chih-Ping CP; Lee, Wang-Tso WT; Lin, Win-Li WL; Lee, Chien-Nan CN
Publication Date: 2006-09-18

Variant appearance in text: TSC2: 5227C>T; R1743W
PubMed Link: 16981987
Variant Present in the following documents:
  • Main text
  • 1471-2350-7-72.pdf
View BVdb publication page