NF1 c.499_502del ;(p.C167Qfs*10)

Variant ID: 17-29496923-CTGTT-C

NM_001042492.2(NF1):c.499_502del;(p.C167Qfs*10)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.

Jama Neurology
Khoshkhoo, Sattar S; Wang, Yilan Y; Chahine, Yasmine Y; Erson-Omay, E Zeynep EZ; Robert, Stephanie M SM; Kiziltug, Emre E; Damisah, Eyiyemisi C EC; Nelson-Williams, Carol C; Zhu, Guangya G; Kong, Wenna W; Huang, August Yue AY; Stronge, Edward E; Phillips, H Westley HW; Chhouk, Brian H BH; Bizzotto, Sara S; Chen, Ming Hui MH; Adikari, Thiuni N TN; Ye, Zimeng Z; Witkowski, Tom T; Lai, Dulcie D; Lee, Nadine N; Lokan, Julie J; Scheffer, Ingrid E IE; Berkovic, Samuel F SF; Haider, Shozeb S; Hildebrand, Michael S MS; Yang, Edward E; Gunel, Murat M; Lifton, Richard P RP; Richardson, R Mark RM; Blümcke, Ingmar I; Alexandrescu, Sanda S; Huttner, Anita A; Heinzen, Erin L EL; Zhu, Jidong J; Poduri, Annapurna A; DeLanerolle, Nihal N; Spencer, Dennis D DD; Lee, Eunjung Alice EA; Walsh, Christopher A CA; Kahle, Kristopher T KT
Publication Date: 2023-05-01

Variant appearance in text: NF1: 499_502del; C167fs
PubMed Link: 37126322
Variant Present in the following documents:
  • Main text
  • jamaneurol-e230473.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: 499_502del
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.

Cancers
Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M
Publication Date: 2022-12-22

Variant appearance in text: NF1: 499_502del; Cys167Glnfs*10
PubMed Link: 36612057
Variant Present in the following documents:
  • cancers-15-00059.pdf
View BVdb publication page



The clinical utility of integrative genomics in childhood cancer extends beyond targetable mutations.

Nature Cancer
Villani, Anita A; Davidson, Scott S; Kanwar, Nisha N; Lo, Winnie W WW; Li, Yisu Y; Cohen-Gogo, Sarah S; Fuligni, Fabio F; Edward, Lisa-Monique LM; Light, Nicholas N; Layeghifard, Mehdi M; Harripaul, Ricardo R; Waldman, Larissa L; Gallinger, Bailey B; Comitani, Federico F; Brunga, Ledia L; Hayes, Reid R; Anderson, Nathaniel D ND; Ramani, Arun K AK; Yuki, Kyoko E KE; Blay, Sasha S; Johnstone, Brittney B; Inglese, Cara C; Hammad, Rawan R; Goudie, Catherine C; Shuen, Andrew A; Wasserman, Jonathan D JD; Venier, Rosemarie E RE; Eliou, Marianne M; Lorenti, Miranda M; Ryan, Carol Ann CA; Braga, Michael M; Gloven-Brown, Meagan M; Han, Jianan J; Montero, Maria M; Spatare, Famida F; Whitlock, James A JA; Scherer, Stephen W SW; Chun, Kathy K; Somerville, Martin J MJ; Hawkins, Cynthia C; Abdelhaleem, Mohamed M; Ramaswamy, Vijay V; Somers, Gino R GR; Kyriakopoulou, Lianna L; Hitzler, Johann J; Shago, Mary M; Morgenstern, Daniel A DA; Tabori, Uri U; Meyn, Stephen S; Irwin, Meredith S MS; Malkin, David D; Shlien, Adam A
Publication Date: 2022-12-30

Variant appearance in text: NF1: 499_502delTGTT; C167Qfs*10
PubMed Link: 36585449
Variant Present in the following documents:
  • 43018_2022_474_MOESM3_ESM.xlsx, sheet 7
  • 43018_2022_474_MOESM7_ESM.xlsx, sheet 7
  • 43018_2022_474_MOESM10_ESM.xlsx, sheet 7
  • 43018_2022_474_MOESM12_ESM.xlsx, sheet 7
  • 43018_2022_474_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09

Variant appearance in text: NF1: 499_502del; Cys167Glnfs*10
PubMed Link: 34887416
Variant Present in the following documents:
  • 41523_2021_360_MOESM1_ESM.pdf
View BVdb publication page



Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09

Variant appearance in text: NF1: 499_502del; Cys167Glnfs*10
PubMed Link: 34887416
Variant Present in the following documents:
  • 41523_2021_360_MOESM1_ESM.pdf
View BVdb publication page



Molecular Diagnosis of Neurofibromatosis by Multigene Panel Testing.

Frontiers In Genetics
Zhang, Zeng-Yun-Ou ZY; Wu, Yuan-Yuan YY; Cai, Xin-Ying XY; Fang, Wen-Liang WL; Xiao, Feng-Li FL
Publication Date: 2021

Variant appearance in text: NF1: 495_498del
PubMed Link: 33767727
Variant Present in the following documents:
  • Main text
  • fgene-12-603195.pdf
View BVdb publication page



Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers
Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V
Publication Date: 2019-11-21

Variant appearance in text: NF1: 499_502delTGTT; Cys167Glnfs*10
PubMed Link: 31766501
Variant Present in the following documents:
  • Main text
  • cancers-11-01838.pdf
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: 499_502del; Cys167Glnfs*10
PubMed Link: 31533797
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1196.pdf
View BVdb publication page



Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Genes
Pinna, Valentina V; Daniele, Paola P; Calcagni, Giulio G; Mariniello, Lucio L; Criscione, Roberta R; Giardina, Chiara C; Lepri, Francesca Romana FR; Hozhabri, Hossein H; Alberico, Angela A; Cavone, Stefania S; Morella, Annunziata Tina AT; Mandile, Roberta R; Annunziata, Francesca F; Di Giosaffatte, Niccolò N; D'Asdia, Maria Cecilia MC; Versacci, Paolo P; Capolino, Rossella R; Strisciuglio, Pietro P; Giustini, Sandra S; Melis, Daniela D; Digilio, Maria Cristina MC; Tartaglia, Marco M; Marino, Bruno B; De Luca, Alessandro A
Publication Date: 2019-09-04

Variant appearance in text: NF1: 499_502delTGTT
PubMed Link: 31487937
Variant Present in the following documents:
  • genes-10-00675-s001.xlsx, sheet 1
View BVdb publication page



Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine
Nair, Pratibha P; Sabbagh, Sandra S; Mansour, Hicham H; Fawaz, Ali A; Hmaimess, Ghassan G; Noun, Peter P; Dagher, Rawane R; Megarbane, Hala H; Hana, Sayeeda S; Alame, Saada S; Lamaa, Maher M; Hasbini, Dana D; Farah, Roula R; Rajab, Mariam M; Stora, Samantha S; El-Tourjuman, Oulfat O; Abou Jaoude, Pauline P; Chalouhi, Gihad G; Sayad, Rony R; Gillart, Anne-Celine AC; Al-Ali, Mahmoud M; Delague, Valerie V; El-Hayek, Stephany S; Mégarbané, André A
Publication Date: 2018-11

Variant appearance in text: NF1: 499_502delTGTT; Cys167Glnfs
PubMed Link: 30293248
Variant Present in the following documents:
  • Main text
  • MGG3-6-1041.pdf
View BVdb publication page



Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics
Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH
Publication Date: 2017-10

Variant appearance in text: NF1: 495_498delTGTT
PubMed Link: 28955729
Variant Present in the following documents:
  • supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
View BVdb publication page



Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10

Variant appearance in text: NF1: 495_498delTGTT
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page