DNMT3A c.1463G>A ;(p.R488Q)

Variant ID: 2-25468900-C-T

NM_022552.4(DNMT3A):c.1463G>A;(p.R488Q)

This variant was identified in 8 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: DNMT3A: R488Q; rs566390868
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: DNMT3A: 1463G>A
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Acquired somatic variants in inherited myeloid malignancies.

Leukemia
Armes, Hannah H; Rio-Machin, Ana A; Krizsán, Szilvia S; Bödör, Csaba C; Kaya, Fadimana F; Bewicke-Copley, Findlay F; Alnajar, Jenna J; Walne, Amanda A; Péterffy, Borbála B; Tummala, Hemanth H; Rouault-Pierre, Kevin K; Dokal, Inderjeet I; Vulliamy, Tom T; Fitzgibbon, Jude J
Publication Date: 2022-05

Variant appearance in text: DNMT3A: R488Q
PubMed Link: 35140362
Variant Present in the following documents:
  • 41375_2022_1515_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Integration Analysis of JAK2 or RUNX1 Mutation With Bone Marrow Blast Can Improve Risk Stratification in the Patients With Lower Risk Myelodysplastic Syndrome.

Frontiers In Oncology
Fang, Ying Y; Guo, Juan J; Wu, Dong D; Wu, Ling-Yun LY; Song, Lu-Xi LX; Zhang, Zheng Z; Zhao, You-Shan YS; Chang, Chun-Kang CK
Publication Date: 2020

Variant appearance in text: DNMT3A: R488Q
PubMed Link: 33520721
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Decoding the Genetic Alterations in Genes of DNMT Family (DNA Methyl-Transferase) and their Association with Head and Neck Squamous Cell Carcinoma.

Asian Pacific Journal Of Cancer Prevention : Apjcp
Fathima, Tahreem T; Arumugam, Paramasivam P; Girija As, Smiline S; Priyadharsini, J Vijayashree JV
Publication Date: 2020-12-01

Variant appearance in text: DNMT3A: R488Q; rs566390868
PubMed Link: 33369458
Variant Present in the following documents:
  • Main text
  • APJCP-21-3605.pdf
View BVdb publication page



The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget
Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J
Publication Date: 2018-06-08

Variant appearance in text: DNMT3A: 1463G>A; R488Q
PubMed Link: 29937994
Variant Present in the following documents:
  • oncotarget-09-27412-s004.xlsx, sheet 1
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: DNMT3A: R488Q
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: DNMT3A: R488Q
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page