TET2 c.2983A>C ;(p.T995P)

Variant ID: 4-106158082-A-C

NM_001127208.2(TET2):c.2983A>C;(p.T995P)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Therapy-related clonal cytopenia as a precursor to therapy-related myeloid neoplasms.

Blood Cancer Journal
Shah, Mithun Vinod MV; Mangaonkar, Abhishek A AA; Begna, Kebede H KH; Alkhateeb, Hassan B HB; Greipp, Patricia P; Nanaa, Ahmad A; Elliott, Michelle A MA; Hogan, William J WJ; Litzow, Mark R MR; McCullough, Kristen K; Tefferi, Ayalew A; Gangat, Naseema N; Patnaik, Mrinal M MM; Al-Kali, Aref A; He, Rong R; Chen, Dong D
Publication Date: 2022-07-08

Variant appearance in text: TET2: 2983A>C; Thr995Pro
PubMed Link: 35803921
Variant Present in the following documents:
  • 41408_2022_703_MOESM2_ESM.pdf
View BVdb publication page



The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: TET2: T995P
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.

Leukemia
Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE
Publication Date: 2021-09

Variant appearance in text: TET2: T995P
PubMed Link: 33580203
Variant Present in the following documents:
  • 41375_2021_1153_MOESM3_ESM.xlsx, sheet 2
  • 41375_2021_1153_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



TET2 missense variants in human neoplasia. A proposal of structural and functional classification.

Molecular Genetics & Genomic Medicine
Bussaglia, Elena E; Antón, Rosa R; Nomdedéu, Josep F JF; Fuentes-Prior, Pablo P
Publication Date: 2019-07

Variant appearance in text: TET2: 2983A>C; Thr995Pro; rs778911750
PubMed Link: 31187595
Variant Present in the following documents:
View BVdb publication page



Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One
Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK
Publication Date: 2018

Variant appearance in text: TET2: 2983A>C; Thr995Pro; rs778911750
PubMed Link: 29641532
Variant Present in the following documents:
  • pone.0194098.s003.xlsx, sheet 6
View BVdb publication page