KIT c.1618G>C ;(p.V540L)

Variant ID: 4-55593461-G-C

NM_000222.2(KIT):c.1618G>C;(p.V540L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: KIT: V540L; rs756179543
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: KIT: V540L
PubMed Link: 35358259
Variant Present in the following documents:
  • pone.0266112.s001.xlsx, sheet 1
View BVdb publication page



Impact of clinical targeted sequencing on endocrine responsiveness in estrogen receptor-positive, HER2-negative metastatic breast cancer.

Scientific Reports
Hagio, Kanako K; Amano, Toraji T; Hayashi, Hideyuki H; Takeshita, Takashi T; Oshino, Tomohiro T; Kikuchi, Junko J; Ohhara, Yoshihito Y; Yabe, Ichiro I; Kinoshita, Ichiro I; Nishihara, Hiroshi H; Yamashita, Hiroko H
Publication Date: 2021-04-14

Variant appearance in text: KIT: V540L
PubMed Link: 33854152
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_87645.pdf
View BVdb publication page



High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.

Experimental & Molecular Medicine
Cho, Sung-Yup SY; Park, Changho C; Na, Deukchae D; Han, Jee Yun JY; Lee, Jieun J; Park, Ok-Kyoung OK; Zhang, Chengsheng C; Sung, Chang Ohk CO; Moon, Hyo Eun HE; Kim, Yona Y; Kim, Jeong Hoon JH; Kim, Jong Jae JJ; Khang, Shin Kwang SK; Nam, Do-Hyun DH; Choi, Jung Won JW; Suh, Yeon-Lim YL; Kim, Dong Gyu DG; Park, Sung Hye SH; Youn, Hyewon H; Yun, Kyuson K; Kim, Jong-Il JI; Lee, Charles C; Paek, Sun Ha SH; Park, Hansoo H
Publication Date: 2017-04-14

Variant appearance in text: KIT: V540L
PubMed Link: 28408749
Variant Present in the following documents:
  • emm20179x1.xlsx, sheet 4
View BVdb publication page



Germline Variants of Prostate Cancer in Japanese Families.

Plos One
Hayano, Takahide T; Matsui, Hiroshi H; Nakaoka, Hirofumi H; Ohtake, Nobuaki N; Hosomichi, Kazuyoshi K; Suzuki, Kazuhiro K; Inoue, Ituro I
Publication Date: 2016

Variant appearance in text: KIT: V540L
PubMed Link: 27701467
Variant Present in the following documents:
  • pone.0164233.s005.xlsx, sheet 1
View BVdb publication page