KMT2C c.9931C>T ;(p.L3311F)

Variant ID: 7-151860731-G-A

NM_170606.2(KMT2C):c.9931C>T;(p.L3311F)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.

Npj Breast Cancer
Kostecka, Anna A; Nowikiewicz, Tomasz T; Olszewski, Paweł P; Koczkowska, Magdalena M; Horbacz, Monika M; Heinzl, Monika M; Andreou, Maria M; Salazar, Renato R; Mair, Theresa T; Madanecki, Piotr P; Gucwa, Magdalena M; Davies, Hanna H; Skokowski, Jarosław J; Buckley, Patrick G PG; Pęksa, Rafał R; Śrutek, Ewa E; Szylberg, Łukasz Ł; Hartman, Johan J; Jankowski, Michał M; Zegarski, Wojciech W; Tiemann-Boege, Irene I; Dumanski, Jan P JP; Piotrowski, Arkadiusz A
Publication Date: 2022-06-29

Variant appearance in text: KMT2C: 9931C>T; Leu3311Phe; rs139610952
PubMed Link: 35768433
Variant Present in the following documents:
  • 41523_2022_443_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: KMT2C: L3311F; rs139610952
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



Follicular lymphoma grade 3B and diffuse large B-cell lymphoma present a histopathological and molecular continuum lacking features of progression/ transformation.

Haematologica
Koch, Karoline K; Richter, Julia J; Hanel, Christoph C; Huttmann, Andreas A; Duhrsen, Ulrich U; Klapper, Wolfram W
Publication Date: 2022-09-01

Variant appearance in text: KMT2C: 9931C>T; Leu3311Phe; rs139610952
PubMed Link: 35021600
Variant Present in the following documents:
  • 2021_279351_KOCK_TAB2_SUPPL.xlsx, sheet 1
View BVdb publication page



Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Zhang, Jinghua J; Dai, Daofeng D; Tian, Junqiang J; Li, Lifeng L; Bai, Jing J; Xu, Yaping Y; Wang, Zhiping Z; Tang, Aifa A
Publication Date: 2021

Variant appearance in text: MLL3: 9931C>T
PubMed Link: 33996580
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28

Variant appearance in text: KMT2C: 9931C>T
PubMed Link: 31133068
Variant Present in the following documents:
  • 13073_2019_644_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014

Variant appearance in text: MLL3: L3311F; rs139610952
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page