MSH6 c.3799_3800del ;(p.M1267Gfs*7)

Variant ID: 2-48033492-CAT-C

NM_000179.2(MSH6):c.3799_3800del;(p.M1267Gfs*7)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: MSH6: 3799_3800del; Met1267fs
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: MSH6: 3799_3800delAT; Met1267Glyfs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Microsatellite instability in prostate cancer by PCR or next-generation sequencing.

Journal For Immunotherapy Of Cancer
Hempelmann, Jennifer A JA; Lockwood, Christina M CM; Konnick, Eric Q EQ; Schweizer, Michael T MT; Antonarakis, Emmanuel S ES; Lotan, Tamara L TL; Montgomery, Bruce B; Nelson, Peter S PS; Klemfuss, Nola N; Salipante, Stephen J SJ; Pritchard, Colin C CC
Publication Date: 2018-04-17

Variant appearance in text: MSH6: 3799_3800del
PubMed Link: 29665853
Variant Present in the following documents:
  • 40425_2018_341_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: MSH6: 3799_3800delAT; Met1267Glyfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer.

Nature Communications
Pritchard, Colin C CC; Morrissey, Colm C; Kumar, Akash A; Zhang, Xiaotun X; Smith, Christina C; Coleman, Ilsa I; Salipante, Stephen J SJ; Milbank, Jennifer J; Yu, Ming M; Grady, William M WM; Tait, Jonathan F JF; Corey, Eva E; Vessella, Robert L RL; Walsh, Tom T; Shendure, Jay J; Nelson, Peter S PS
Publication Date: 2014-09-25

Variant appearance in text: MSH6: 3799_3800del; M1267Gfs*7
PubMed Link: 25255306
Variant Present in the following documents:
  • Main text
  • ncomms5988.pdf
  • ncomms5988-s1.pdf
View BVdb publication page