NF1 c.3233C>G ;(p.S1078*)

Variant ID: 17-29559126-C-G

NM_001042492.2(NF1):c.3233C>G;(p.S1078*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genomic patterns of malignant peripheral nerve sheath tumor (MPNST) evolution correlate with clinical outcome and are detectable in cell-free DNA.

Cancer Discovery
Cortes-Ciriano, Isidro I; Steele, Christopher D CD; Piculell, Katherine K; Al-Ibraheemi, Alyaa A; Eulo, Vanessa V; Bui, Marilyn M MM; Chatzipli, Aikaterini A; Dickson, Brendan C BC; Borcherding, Dana C DC; Feber, Andrew A; Galor, Alon A; Hart, Jesse J; Jones, Kevin B KB; Jordan, Justin T JT; Kim, Raymond H RH; Lindsay, Daniel D; Miller, Colin C; Nishida, Yoshihiro Y; Proszek, Paula Z PZ; Serrano, Jonathan J; Sundby, R Taylor RT; Szymanski, Jeffrey J JJ; Ullrich, Nicole J NJ; Viskochil, David D; Wang, Xia X; Snuderl, Matija M; Park, Peter J PJ; Flanagan, Adrienne M AM; Hirbe, Angela C AC; Pillay, Nischalan N; Miller, David T DT
Publication Date: 2023-01-04

Variant appearance in text: NF1: S1078X
PubMed Link: 36598417
Variant Present in the following documents:
  • cd-22-0786_supplementary_tables_s1_and_s2_suppst1.xlsx, sheet 1
View BVdb publication page



Multiplatform molecular analyses refine classification of gliomas arising in patients with neurofibromatosis type 1.

Acta Neuropathologica
Lucas, Calixto-Hope G CG; Sloan, Emily A EA; Gupta, Rohit R; Wu, Jasper J; Pratt, Drew D; Vasudevan, Harish N HN; Ravindranathan, Ajay A; Barreto, Jairo J; Williams, Erik A EA; Shai, Anny A; Whipple, Nicholas S NS; Bruggers, Carol S CS; Maher, Ossama O; Nabors, Burt B; Rodriguez, Michael M; Samuel, David D; Brown, Melandee M; Carmichael, Jason J; Lu, Rufei R; Mirchia, Kanish K; Sullivan, Daniel V DV; Pekmezci, Melike M; Tihan, Tarik T; Bollen, Andrew W AW; Perry, Arie A; Banerjee, Anuradha A; Mueller, Sabine S; Gupta, Nalin N; Hervey-Jumper, Shawn L SL; Oberheim Bush, Nancy Ann NA; Daras, Mariza M; Taylor, Jennie W JW; Butowski, Nicholas A NA; de Groot, John J; Clarke, Jennifer L JL; Raleigh, David R DR; Costello, Joseph F JF; Phillips, Joanna J JJ; Reddy, Alyssa T AT; Chang, Susan M SM; Berger, Mitchel S MS; Solomon, David A DA
Publication Date: 2022-10

Variant appearance in text: NF1: 3233C>G; S1078*
PubMed Link: 35945463
Variant Present in the following documents:
  • 401_2022_2478_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: NF1: S1078*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology
Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM
Publication Date: 2020-10

Variant appearance in text: NF1: 3233C>G
PubMed Link: 32666581
Variant Present in the following documents:
  • Main text
  • PATH-252-151.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: NF1: S1078*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page