MSH6 c.3515G>C ;(p.R1172T)

Variant ID: 2-48032125-G-C

NM_000179.2(MSH6):c.3515G>C;(p.R1172T)

This variant was identified in 4 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: 3515G>C; R1172T; rs864622217
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Genome Biology
Scott, Anthony A; Hernandez, Felicia F; Chamberlin, Adam A; Smith, Cathy C; Karam, Rachid R; Kitzman, Jacob O JO
Publication Date: 2022-12-22

Variant appearance in text: MSH6: 3515G>C; R1172T
PubMed Link: 36550560
Variant Present in the following documents:
  • 13059_2022_2839_MOESM4_ESM.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: 3515G>C; Arg1172Thr; rs864622217
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Comparison of long-term outcomes between Lynch sydrome and sporadic colorectal cancer: a propensity score matching analysis.

Bmc Cancer
Xu, Yun Y; Li, Cong C; Zheng, Charlie Zhi-Lin CZ; Zhang, Yu-Qin YQ; Guo, Tian-An TA; Liu, Fang-Qi FQ; Xu, Ye Y
Publication Date: 2021-01-09

Variant appearance in text: MSH6: 3515G>C; Arg1172Thr
PubMed Link: 33422027
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7771.pdf
View BVdb publication page