TSC2 c.3850_3856del ;(p.Q1284Sfs*39)

Variant ID: 16-2132470-GCCAAGGA-G

NM_000548.3(TSC2):c.3850_3856del;(p.Q1284Sfs*39)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: TSC2: 3850_3856delCAAGGAC; Q1284Sfs*39; rs752493138
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page



A renal cell carcinoma tumorgraft platform to advance precision medicine.

Cell Reports
Elias, Roy R; Tcheuyap, Vanina T VT; Kaushik, Akash K AK; Singla, Nirmish N; Gao, Ming M; Reig Torras, Oscar O; Christie, Alana A; Mulgaonkar, Aditi A; Woolford, Layton L; Stevens, Christina C; Kettimuthu, Kavitha Priya KP; Pavia-Jimenez, Andrea A; Boroughs, Lindsey K LK; Joyce, Allison A; Dakanali, Marianna M; Notgrass, Hollis H; Margulis, Vitaly V; Cadeddu, Jeffrey A JA; Pedrosa, Ivan I; Williams, Noelle S NS; Sun, Xiankai X; DeBerardinis, Ralph J RJ; Öz, Orhan K OK; Zhong, Hua H; Seshagiri, Somasekar S; Modrusan, Zora Z; Cantarel, Brandi L BL; Kapur, Payal P; Brugarolas, James J
Publication Date: 2021-11-23

Variant appearance in text: TSC2: 3850_3856delCAAGGAC; Q1284Sfs*39; rs752493138
PubMed Link: 34818533
Variant Present in the following documents:
  • NIHMS1761779-supplement-Table_S8.xlsx, sheet 1
View BVdb publication page



Active Disclosure of Secondary Germline Findings to Deceased Research Participants' Personal Representatives: Process and Outcomes.

Jco Precision Oncology
Daniels, Molly M; Wathoo, Chetna C; Brusco, Lauren L; Lu, Karen H KH; Shaw, Kenna K; Dumbrava, Ecaterina E Ileana EEI; Arun, Banu B; Strong, Louise L; Litton, Jennifer K JK; Eterovic, Karina K; Aytac, Ugur U; Mendelsohn, John J; Mills, Gordon B GB; Chen, Ken K; Meric-Bernstam, Funda F
Publication Date: 2017

Variant appearance in text: TSC2: Q1284SfsX39
PubMed Link: 31552380
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Clinical Genetics
Najafi, Arash A; Caspar, Sylvan M SM; Meienberg, Janine J; Rohrbach, Marianne M; Steinmann, Beat B; Matyas, Gabor G
Publication Date: 2020-02

Variant appearance in text: TSC2: 3850_3856del; Gln1284Serfs
PubMed Link: 31506931
Variant Present in the following documents:
  • CGE-97-235-s001.pdf
View BVdb publication page