NF1 c.2044C>T ;(p.Q682*)

Variant ID: 17-29553495-C-T

NM_001042492.2(NF1):c.2044C>T;(p.Q682*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: 2044C>T
PubMed Link: 36865205
Variant Present in the following documents:
  • media-10.xlsx, sheet 1
View BVdb publication page



Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06

Variant appearance in text: NF1: 2044C>T; Q682X
PubMed Link: 35053433
Variant Present in the following documents:
  • Main text
  • cancers-14-00269.pdf
View BVdb publication page



Genetic Alterations in Mitochondrial DNA Are Complementary to Nuclear DNA Mutations in Pheochromocytomas.

Cancers
Tabebi, Mouna M; Łysiak, Małgorzata M; Dutta, Ravi Kumar RK; Lomazzi, Sandra S; Turkina, Maria V MV; Brunaud, Laurent L; Gimm, Oliver O; Söderkvist, Peter P
Publication Date: 2022-01-06

Variant appearance in text: NF1: 2044C>T; Q682X
PubMed Link: 35053433
Variant Present in the following documents:
  • Main text
  • cancers-14-00269.pdf
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: NF1: 2044C>T; Gln682*
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



Challenges in reporting pathogenic/potentially pathogenic variants in 94 cancer predisposing genes - in pediatric patients screened with NGS panels.

Scientific Reports
Chirita-Emandi, Adela A; Andreescu, Nicoleta N; Zimbru, Cristian G CG; Tutac, Paul P; Arghirescu, Smaranda S; Serban, Margit M; Puiu, Maria M
Publication Date: 2020-01-14

Variant appearance in text: NF1: 2044C>T
PubMed Link: 31937788
Variant Present in the following documents:
  • 41598_2019_57080_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: NF1: 2044C>T; Q682*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



One NF1 Mutation may Conceal Another.

Genes
Pacot, Laurence L; Burin des Roziers, Cyril C; Laurendeau, Ingrid I; Briand-Suleau, Audrey A; Coustier, Audrey A; Mayard, Théodora T; Tlemsani, Camille C; Faivre, Laurence L; Thomas, Quentin Q; Rodriguez, Diana D; Blesson, Sophie S; Dollfus, Hélène H; Muller, Yvon-Gauthier YG; Parfait, Béatrice B; Vidaud, Michel M; Gilbert-Dussardier, Brigitte B; Yardin, Catherine C; Dauriat, Benjamin B; Derancourt, Christian C; Vidaud, Dominique D; Pasmant, Eric E
Publication Date: 2019-08-22

Variant appearance in text: NF1: 2044C>T; Gln682*
PubMed Link: 31443423
Variant Present in the following documents:
  • Main text
  • genes-10-00633.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: Gln682Ter
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Cutaneous neurofibromas in Neurofibromatosis type I: a quantitative natural history study.

Orphanet Journal Of Rare Diseases
Cannon, Ashley A; Chen, Mei-Jan MJ; Li, Peng P; Boyd, Kevin P KP; Theos, Amy A; Redden, David T DT; Korf, Bruce B
Publication Date: 2018-02-07

Variant appearance in text: NF1: 2044C>T; Q682X
PubMed Link: 29415745
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_772.pdf
View BVdb publication page