NF1 c.6854dup ;(p.Y2285*)

Variant ID: 17-29665755-T-TA

NM_001042492.2(NF1):c.6854dup;(p.Y2285*)

This variant was identified in 17 publications

View GRCh38 version.




Publications:


Comparison of Genetic Profiles of Neonates in Intensive Care Units Conceived With or Without Assisted Reproductive Technology.

Jama Network Open
Huang, Zhongwen Z; Xiao, Feifan F; Xiao, Hui H; Lu, Yulan Y; Yang, Lin L; Zhuang, Deyi D; Chen, Liping L; Wei, Qiufen Q; Jiang, Yinmo Y; Li, Gang G; Wu, Bingbing B; Liu, Zhiwei Z; Zhou, Wenhao W; Wang, Huijun H
Publication Date: 2023-04-03

Variant appearance in text: NF1: 6854dup; Y2285X
PubMed Link: 37014641
Variant Present in the following documents:
  • jamanetwopen-e236537-s001.pdf
View BVdb publication page



APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.

Medrxiv : The Preprint Server For Health Sciences
Walker, Logan C LC; de la Hoya, Miguel M; Wiggins, George Ar GA; Lindy, Amanda A; Vincent, Lisa M LM; Parsons, Michael M; Canson, Daffodil M DM; Bis-Brewer, Dana D; Cass, Ashley A; Tchourbanov, Alexander A; Zimmermann, Heather H; Byrne, Alicia B AB; Pesaran, Tina T; Karam, Rachid R; Harrison, Steven M SM; , ; Spurdle, Amanda B AB
Publication Date: 2023-02-26

Variant appearance in text: NF1: 6854dup
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: NF1: 6854dup; Y2285*
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology
Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M
Publication Date: 2022

Variant appearance in text: NF1: 6854dupA; Tyr2285Ter
PubMed Link: 35936718
Variant Present in the following documents:
  • Table_4.xlsx, sheet 2
View BVdb publication page



Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity.

Nature Communications
Möhrmann, Lino L; Werner, Maximilian M; Oleś, Małgorzata M; Mock, Andreas A; Uhrig, Sebastian S; Jahn, Arne A; Kreutzfeldt, Simon S; Fröhlich, Martina M; Hutter, Barbara B; Paramasivam, Nagarajan N; Richter, Daniela D; Beck, Katja K; Winter, Ulrike U; Pfütze, Katrin K; Heilig, Christoph E CE; Teleanu, Veronica V; Lipka, Daniel B DB; Zapatka, Marc M; Hanf, Dorothea D; List, Catrin C; Allgäuer, Michael M; Penzel, Roland R; Rüter, Gina G; Jelas, Ivan I; Hamacher, Rainer R; Falkenhorst, Johanna J; Wagner, Sebastian S; Brandts, Christian H CH; Boerries, Melanie M; Illert, Anna L AL; Metzeler, Klaus H KH; Westphalen, C Benedikt CB; Desuki, Alexander A; Kindler, Thomas T; Folprecht, Gunnar G; Weichert, Wilko W; Brors, Benedikt B; Stenzinger, Albrecht A; Schröck, Evelin E; Hübschmann, Daniel D; Horak, Peter P; Heining, Christoph C; Fröhling, Stefan S; Glimm, Hanno H
Publication Date: 2022-08-02

Variant appearance in text: NF1: 6854dupA
PubMed Link: 35918329
Variant Present in the following documents:
  • 41467_2022_31866_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Lenalidomide promotes the development of TP53-mutated therapy-related myeloid neoplasms.

Blood
Sperling, Adam S AS; Guerra, Veronica A VA; Kennedy, James A JA; Yan, Yuanqing Y; Hsu, Joanne I JI; Wang, Feng F; Nguyen, Andrew T AT; Miller, Peter G PG; McConkey, Marie E ME; Quevedo Barrios, Vanessa A VA; Furudate, Ken K; Zhang, Linda L; Kanagal-Shamanna, Rashmi R; Zhang, Jianhua J; Little, Latasha L; Gumbs, Curtis C; Daver, Naval N; DiNardo, Courtney D CD; Kadia, Tapan T; Ravandi, Farhad F; Kantarjian, Hagop H; Garcia-Manero, Guillermo G; Futreal, P Andrew PA; Ebert, Benjamin L BL; Takahashi, Koichi K
Publication Date: 2022-10-20

Variant appearance in text: NF1: 6853_6854insA
PubMed Link: 35512188
Variant Present in the following documents:
  • BLOOD_BLD-2021-014956-mmc1.pdf
View BVdb publication page



Large-scale discovery of novel neurodevelopmental disorder-related genes through a unified analysis of single-nucleotide and copy number variants.

Genome Medicine
Hamanaka, Kohei K; Miyake, Noriko N; Mizuguchi, Takeshi T; Miyatake, Satoko S; Uchiyama, Yuri Y; Tsuchida, Naomi N; Sekiguchi, Futoshi F; Mitsuhashi, Satomi S; Tsurusaki, Yoshinori Y; Nakashima, Mitsuko M; Saitsu, Hirotomo H; Yamada, Kohei K; Sakamoto, Masamune M; Fukuda, Hiromi H; Ohori, Sachiko S; Saida, Ken K; Itai, Toshiyuki T; Azuma, Yoshiteru Y; Koshimizu, Eriko E; Fujita, Atsushi A; Erturk, Biray B; Hiraki, Yoko Y; Ch'ng, Gaik-Siew GS; Kato, Mitsuhiro M; Okamoto, Nobuhiko N; Takata, Atsushi A; Matsumoto, Naomichi N
Publication Date: 2022-04-26

Variant appearance in text: NF1: 6854dupA; Tyr2285fs
PubMed Link: 35468861
Variant Present in the following documents:
  • 13073_2022_1042_MOESM2_ESM.xls, sheet 8
View BVdb publication page



Neurofibromatosis Type 1 Has a Wide Spectrum of Growth Hormone Excess.

Journal Of Clinical Medicine
Hannah-Shmouni, Fady F; Trivellin, Giampaolo G; Beckers, Pablo P; Karaviti, Lefkothea P LP; Lodish, Maya M; Tatsi, Christina C; Adesina, Adekunle M AM; Adamidou, Fotini F; Mintziori, Gesthimani G; Josefson, Jami L JL; Quezado, Martha M; Stratakis, Constantine A CA
Publication Date: 2022-04-13

Variant appearance in text: rs876657715
PubMed Link: 35456261
Variant Present in the following documents:
  • jcm-11-02168.pdf
View BVdb publication page



Utilisation of semiconductor sequencing for the detection of predictive biomarkers in glioblastoma.

Plos One
Williams, Gareth G; Llewelyn, Alexander A; Thatcher, Robert R; Hardisty, Keeda-Marie KM; Loddo, Marco M
Publication Date: 2022

Variant appearance in text: rs876657715
PubMed Link: 35324914
Variant Present in the following documents:
  • pone.0245817.s005.pdf
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: NF1: 6854dupA; Tyr2285Ter
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine
N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS
Publication Date: 2021-06-03

Variant appearance in text: rs876657715
PubMed Link: 34080803
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1631.pdf
View BVdb publication page



Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine
N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS
Publication Date: 2021-12

Variant appearance in text: rs876657715
PubMed Link: 34080803
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1631.pdf
View BVdb publication page



A germline PALB2 pathogenic variant identified in a pediatric high-grade glioma.

Cold Spring Harbor Molecular Case Studies
Zhong, Yiming Y; Schubert, Jeffrey J; Wu, Jinhua J; Xu, Feng F; Lin, Fumin F; Cao, Kajia K; Zelley, Kristin K; Luo, Minjie M; Foster, Jessica B JB; Cole, Kristina A KA; MacFarland, Suzanne P SP; Resnick, Adam C AC; Storm, Phillip B PB; Li, Marilyn M MM
Publication Date: 2020-08

Variant appearance in text: NF1: 6854dup; Tyr2285*
PubMed Link: 32554798
Variant Present in the following documents:
  • Main text
  • MCS005397Zho.pdf
View BVdb publication page



Expanding the Noonan spectrum/RASopathy NGS panel: Benefits of adding NF1 and SPRED1.

Molecular Genetics & Genomic Medicine
Witkowski, Leora L; Dillon, Mitchell W MW; Murphy, Elissa E; S Lebo, Matthew M; Mason-Suares, Heather H
Publication Date: 2020-04

Variant appearance in text: NF1: 6854_6855insA
PubMed Link: 32107864
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.

Orphanet Journal Of Rare Diseases
Zhu, Guanghui G; Zheng, Yu Y; Liu, Yaoxi Y; Yan, An A; Hu, Zhengmao Z; Yang, Yongjia Y; Xiang, Shiting S; Li, Liping L; Chen, Weijian W; Peng, Yu Y; Zhong, Nanbert N; Mei, Haibo H
Publication Date: 2019-09-18

Variant appearance in text: NF1: 6854dup; Tyr2285*
PubMed Link: 31533797
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1196.pdf
View BVdb publication page



Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1.

Bmc Medical Genetics
Mao, Bin B; Chen, Siyu S; Chen, Xin X; Yu, Xiumei X; Zhai, Xiaojia X; Yang, Tao T; Li, Lulu L; Wang, Zheng Z; Zhao, Xiuli X; Zhang, Xue X
Publication Date: 2018-06-18

Variant appearance in text: NF1: 6853_6854insA
PubMed Link: 29914388
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_615.pdf
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: 6854dupA
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
View BVdb publication page



The use of next-generation sequencing in molecular diagnosis of neurofibromatosis type 1: a validation study.

Genetic Testing And Molecular Biomarkers
Maruoka, Ryo R; Takenouchi, Toshiki T; Torii, Chiharu C; Shimizu, Atsushi A; Misu, Kumiko K; Higasa, Koichiro K; Matsuda, Fumihiko F; Ota, Arihito A; Tanito, Katsumi K; Kuramochi, Akira A; Arima, Yoshimi Y; Otsuka, Fujio F; Yoshida, Yuichi Y; Moriyama, Keiji K; Niimura, Michihito M; Saya, Hideyuki H; Kosaki, Kenjiro K
Publication Date: 2014-11

Variant appearance in text: NF1: 6853_6854insA
PubMed Link: 25325900
Variant Present in the following documents:
  • Main text
View BVdb publication page