Variant ID: 10-43601830-G-A

NM_020975.4(RET):c.874G>A;(p.Val292Met)

This variant was identified in 15 publications




Publications:


Multiple cancer susceptible genes sequencing in BRCA-negative breast cancer with high hereditary risk.

Annals Of Translational Medicine
GT Lang, JX Shi, L Huang, AY Cao, CH Zhang, CG Song, ZG Zhuang, X Hu, W Huang, ZM Shao
Publication Date: 2020-11

Variant appearance in text: RET: 874G>A; V292M; rs34682185
PubMed Link: 33313162
Variant Present in the following documents:
  • Main text
View BVdb publication page



The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.

Journal Of Cellular And Molecular Medicine
Z Yang, X Qi, N Gross, X Kou, Y Bai, Y Feng, B Wang, ME Zafereo, G Li, C Sun, H Li, X Chen, Z Huang
Publication Date: 2020-09-29

Variant appearance in text: RET: 874G>A; V292M
PubMed Link: 32989896
Variant Present in the following documents:
  • Main text
View BVdb publication page



Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One
JW Lee, NKD Kim, SH Lee, HW Cho, Y Ma, HY Ju, KH Yoo, KW Sung, HH Koo, WY Park
Publication Date: 2019

Variant appearance in text: rs34682185
PubMed Link: 31747416
Variant Present in the following documents:
  • pone.0224227.s002.xlsx
View BVdb publication page



Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis.

Bmc Medical Genomics
B Kim, D Won, M Jang, H Kim, JR Choi, TI Kim, ST Lee
Publication Date: 2019-07-03

Variant appearance in text: RET: 874G>A; Val292Met
PubMed Link: 31269945
Variant Present in the following documents:
  • 12920_2019_553_MOESM1_ESM.docx
View BVdb publication page



Characteristics of genomic alterations of lung adenocarcinoma in young never-smokers.

International Journal Of Cancer
W Luo, P Tian, Y Wang, H Xu, L Chen, C Tang, Y Shu, S Zhang, Z Wang, J Zhang, L Zhang, L Jiang, L Liu, G Che, C Guo, H Zhang, J Wang, W Li
Publication Date: 2018-10-01

Variant appearance in text: rs34682185
PubMed Link: 29667179
Variant Present in the following documents:
  • IJC-143-1696-s009.pdf
View BVdb publication page



ARID1B alterations identify aggressive tumors in neuroblastoma.

Oncotarget
SH Lee, JS Kim, S Zheng, JT Huse, JS Bae, JW Lee, KH Yoo, HH Koo, S Kyung, WY Park, KW Sung
Publication Date: 2017-07-11

Variant appearance in text: rs34682185
PubMed Link: 28521285
Variant Present in the following documents:
  • oncotarget-08-45943-s002.xlsx
View BVdb publication page



Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.

Thyroid : Official Journal Of The American Thyroid Association
JS Mathiesen, JP Kroustrup, P Vestergaard, K Stochholm, PL Poulsen, ÅK Rasmussen, U Feldt-Rasmussen, M Gaustadnes, TF Ørntoft, T van Overeem Hansen, FC Nielsen, K Brixen, C Godballe, AL Frederiksen
Publication Date: 2017-02

Variant appearance in text: RET: V292M
PubMed Link: 27809725
Variant Present in the following documents:
  • Main text
View BVdb publication page



Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

Ebiomedicine
SS Jamuar, JL Kuan, M Brett, Z Tiang, WL Tan, JY Lim, WK Liew, A Javed, WK Liew, HY Law, ES Tan, A Lai, I Ng, YY Teo, B Venkatesh, B Reversade, EC Tan, R Foo
Publication Date: 2016-03

Variant appearance in text: RET: Val292Met; rs34682185
PubMed Link: 27077130
Variant Present in the following documents:
  • Main text
View BVdb publication page



Pediatric Medullary Thyroid Carcinoma.

Journal Of Pediatric Oncology
D Starenki, JI Park
Publication Date: 2015

Variant appearance in text: RET: V292M
PubMed Link: 27014708
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Plos One
E Olfson, CE Cottrell, NO Davidson, CA Gurnett, JW Heusel, NO Stitziel, LS Chen, S Hartz, R Nagarajan, NL Saccone, LJ Bierut
Publication Date: 2015

Variant appearance in text: RET: 874G>A; V292M; rs34682185
PubMed Link: 26332594
Variant Present in the following documents:
  • pone.0135193.s002.xls
View BVdb publication page



Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Nature Genetics
JC Taylor, HC Martin, S Lise, J Broxholme, JB Cazier, A Rimmer, A Kanapin, G Lunter, S Fiddy, C Allan, AR Aricescu, M Attar, C Babbs, J Becq, D Beeson, C Bento, P Bignell, E Blair, VJ Buckle, K Bull, O Cais, H Cario, H Chapel, RR Copley, R Cornall, J Craft, K Dahan, EE Davenport, C Dendrou, O Devuyst, AL Fenwick, J Flint, L Fugger, RD Gilbert, A Goriely, A Green, IH Greger, R Grocock, AV Gruszczyk, R Hastings, E Hatton, D Higgs, A Hill, C Holmes, M Howard, L Hughes, P Humburg, D Johnson, F Karpe, Z Kingsbury, U Kini, JC Knight, J Krohn, S Lamble, C Langman, L Lonie, J Luck, D McCarthy, SJ McGowan, MF McMullin, KA Miller, L Murray, AH Németh, MA Nesbit, D Nutt, E Ormondroyd, AB Oturai, A Pagnamenta, SY Patel, M Percy, N Petousi, P Piazza, SE Piret, G Polanco-Echeverry, N Popitsch, F Powrie, C Pugh, L Quek, PA Robbins, K Robson, A Russo, N Sahgal, PA van Schouwenburg, A Schuh, E Silverman, A Simmons, PS Sørensen, E Sweeney, J Taylor, RV Thakker, I Tomlinson, A Trebes, SR Twigg, HH Uhlig, P Vyas, T Vyse, SA Wall, H Watkins, MP Whyte, L Witty, B Wright, C Yau, D Buck, S Humphray, PJ Ratcliffe, JI Bell, AO Wilkie, D Bentley, P Donnelly, G McVean
Publication Date: 2015-07

Variant appearance in text: RET: 874G>A; V292M
PubMed Link: 25985138
Variant Present in the following documents:
  • NIHMS63135-supplement-1.pdf
View BVdb publication page



Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Endocrine-Related Cancer
RA Toledo, R Hatakana, DM Lourenço, SC Lindsey, CP Camacho, M Almeida, JV Lima, T Sekiya, E Garralda, MS Naslavsky, GL Yamamoto, M Lazar, O Meirelles, TJ Sobreira, ML Lebrao, YA Duarte, J Blangero, M Zatz, JM Cerutti, RM Maciel, SP Toledo
Publication Date: 2015-02

Variant appearance in text: RET: V292M
PubMed Link: 25425582
Variant Present in the following documents:
  • Main text
View BVdb publication page



Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.

American Journal Of Human Genetics
JJ Johnston, WS Rubinstein, FM Facio, D Ng, LN Singh, JK Teer, JC Mullikin, LG Biesecker
Publication Date: 2012-07-13

Variant appearance in text: RET: 874G>A; Val292Met; rs34682185
PubMed Link: 22703879
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



RET mutational spectrum in Hirschsprung disease: evaluation of 601 Chinese patients.

Plos One
MT So, TY Leon, G Cheng, CS Tang, XP Miao, BK Cornes, NN Diem, L Cui, ES Ngan, VC Lui, XZ Wu, B Wang, H Wang, ZW Yuan, LM Huang, L Li, H Xia, D Zhu, J Liu, TL Nguyen, IH Chan, PH Chung, XL Liu, R Zhang, KK Wong, PC Sham, SS Cherny, PK Tam, MM Garcia-Barcelo
Publication Date: 2011

Variant appearance in text: RET: V292M
PubMed Link: 22174939
Variant Present in the following documents:
  • Main text
  • pone.0028986.s005.docx
  • pone.0028986.s006.docx
View BVdb publication page



RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family.

Plos One
XP Qi, JM Ma, ZF Du, RB Ying, J Fei, HY Jin, JS Han, JQ Wang, XL Chen, CY Chen, WT Liu, JJ Lu, JG Zhang, XN Zhang
Publication Date: 2011

Variant appearance in text: RET: V292M
PubMed Link: 21655256
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternative transcript annotations:

Transcript cDNA Protein Consequence Exon Intron
ENST00000340058.5 c.874G>A p.Val292Met missense_variant 5/19 -
ENST00000355710.3 c.874G>A p.Val292Met missense_variant 5/20 -
ENST00000479913.1 n.469G>A - non_coding_transcript_exon_variant 2/2 -
ENST00000498820.1 c.74-5717G>A - intron_variant - 1/4
NM_001355216.1 c.112G>A p.Val38Met missense_variant 2/16 -
NM_020630.5 c.874G>A p.Val292Met missense_variant 5/19 -
NM_020975.6 c.874G>A p.Val292Met missense_variant 5/20 -