KMT2D c.7670C>T ;(p.P2557L)

Variant ID: 12-49433883-G-A

NM_003482.3(KMT2D):c.7670C>T;(p.P2557L)

This variant was identified in 22 publications

View GRCh38 version.




Publications:


Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22

Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: KMT2D: P2557L
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu; rs189888707
PubMed Link: 35085295
Variant Present in the following documents:
  • Main text
  • pone.0262419.s002.xlsx, sheet 1
  • pone.0262419.pdf
View BVdb publication page



Family-based whole-exome sequencing identifies rare variants potentially related to cutaneous melanoma predisposition in Brazilian melanoma-prone families.

Plos One
Fidalgo, Felipe F; Torrezan, Giovana Tardin GT; Sá, Bianca Costa Soares de BCS; Barros, Bruna Durães de Figueiredo BDF; Moredo, Luciana Facure LF; Valieris, Renan R; de Souza, Sandro J SJ; Duprat, João Pereira JP; Krepischi, Ana Cristina Victorino ACV; Carraro, Dirce Maria DM
Publication Date: 2022

Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu; rs189888707
PubMed Link: 35085295
Variant Present in the following documents:
  • Main text
  • pone.0262419.s002.xlsx, sheet 1
  • pone.0262419.pdf
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: KMT2D: 7670C>T; P2557L; rs189888707
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



PRMT1-dependent regulation of RNA metabolism and DNA damage response sustains pancreatic ductal adenocarcinoma.

Nature Communications
Giuliani, Virginia V; Miller, Meredith A MA; Liu, Chiu-Yi CY; Hartono, Stella R SR; Class, Caleb A CA; Bristow, Christopher A CA; Suzuki, Erika E; Sanz, Lionel A LA; Gao, Guang G; Gay, Jason P JP; Feng, Ningping N; Rose, Johnathon L JL; Tomihara, Hideo H; Daniele, Joseph R JR; Peoples, Michael D MD; Bardenhagen, Jennifer P JP; Geck Do, Mary K MK; Chang, Qing E QE; Vangamudi, Bhavatarini B; Vellano, Christopher C; Ying, Haoqiang H; Deem, Angela K AK; Do, Kim-Anh KA; Genovese, Giannicola G; Marszalek, Joseph R JR; Kovacs, Jeffrey J JJ; Kim, Michael M; Fleming, Jason B JB; Guccione, Ernesto E; Viale, Andrea A; Maitra, Anirban A; Emilia Di Francesco, M M; Yap, Timothy A TA; Jones, Philip P; Draetta, Giulio G; Carugo, Alessandro A; Chedin, Frederic F; Heffernan, Timothy P TP
Publication Date: 2021-07-30

Variant appearance in text: KMT2D: 7670C>T; P2557L
PubMed Link: 34330913
Variant Present in the following documents:
  • 41467_2021_24798_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The mutation profile of differentiated thyroid cancer coexisting with undifferentiated anaplastic cancer resembles that of anaplastic thyroid cancer but not that of archetypal differentiated thyroid cancer.

Journal Of Applied Genetics
Mika, Justyna J; Łabaj, Wojciech W; Chekan, Mykola M; Abramowicz, Agata A; Pietrowska, Monika M; Polański, Andrzej A; Widłak, Piotr P
Publication Date: 2021-02

Variant appearance in text: KMT2D: P2557L
PubMed Link: 33222100
Variant Present in the following documents:
  • 13353_2020_594_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Cas9 activates the p53 pathway and selects for p53-inactivating mutations.

Nature Genetics
Enache, Oana M OM; Rendo, Veronica V; Abdusamad, Mai M; Lam, Daniel D; Davison, Desiree D; Pal, Sangita S; Currimjee, Naomi N; Hess, Julian J; Pantel, Sasha S; Nag, Anwesha A; Thorner, Aaron R AR; Doench, John G JG; Vazquez, Francisca F; Beroukhim, Rameen R; Golub, Todd R TR; Ben-David, Uri U
Publication Date: 2020-07

Variant appearance in text: KMT2D: 7670C>T; P2557L; rs189888707
PubMed Link: 32424350
Variant Present in the following documents:
  • NIHMS1581982-supplement-1581982_Supp_Dataset1-7.xlsx, sheet 7
View BVdb publication page



IGLV3-21 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Maity, Palash C PC; Bilal, Mayas M; Koning, Marvyn T MT; Young, Marc M; van Bergen, Cornelis A M CAM; Renna, Valerio V; Nicolò, Antonella A; Datta, Moumita M; Gentner-Göbel, Eva E; Barendse, Rob S RS; Somers, Sebastiaan F SF; de Groen, Ruben A L RAL; Vermaat, Joost S P JSP; Steinbrecher, Daniela D; Schneider, Christof C; Tausch, Eugen E; Bittolo, Tamara T; Bomben, Riccardo R; Mazzarello, Andrea Nicola AN; Del Poeta, Giovanni G; Kroes, Wilma G M WGM; van Wezel, J Tom JT; Imkeller, Katharina K; Busse, Christian E CE; Degano, Massimo M; Bakchoul, Tamam T; Schulz, Axel Ronald AR; Mei, Henrik H; Ghia, Paolo P; Kotta, Konstantia K; Stamatopoulos, Kostas K; Wardemann, Hedda H; Zucchetto, Antonella A; Chiorazzi, Nicholas N; Gattei, Valter V; Stilgenbauer, Stephan S; Veelken, Hendrik H; Jumaa, Hassan H
Publication Date: 2020-02-25

Variant appearance in text: KMT2D: P2557L
PubMed Link: 32047037
Variant Present in the following documents:
  • pnas.1913810117.sapp.pdf
View BVdb publication page



Evolving neoantigen profiles in colorectal cancers with DNA repair defects.

Genome Medicine
Rospo, Giuseppe G; Lorenzato, Annalisa A; Amirouchene-Angelozzi, Nabil N; Magrì, Alessandro A; Cancelliere, Carlotta C; Corti, Giorgio G; Negrino, Carola C; Amodio, Vito V; Montone, Monica M; Bartolini, Alice A; Barault, Ludovic L; Novara, Luca L; Isella, Claudio C; Medico, Enzo E; Bertotti, Andrea A; Trusolino, Livio L; Germano, Giovanni G; Di Nicolantonio, Federica F; Bardelli, Alberto A
Publication Date: 2019-06-28

Variant appearance in text: KMT2D: P2557L
PubMed Link: 31253177
Variant Present in the following documents:
  • 13073_2019_654_MOESM2_ESM.xlsx, sheet 63
View BVdb publication page



Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports
Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R
Publication Date: 2019-06-04

Variant appearance in text: KMT2D: P2557L; rs189888707
PubMed Link: 31164688
Variant Present in the following documents:
  • 41598_2019_44143_MOESM2_ESM.xls, sheet 1
  • 41598_2019_44143_MOESM3_ESM.xls, sheet 1
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Theranostics
Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J
Publication Date: 2019

Variant appearance in text: KMT2D: P2557L
PubMed Link: 30809292
Variant Present in the following documents:
  • thnov09p0540s1.pdf
View BVdb publication page



The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30

Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu; rs189888707
PubMed Link: 29487696
Variant Present in the following documents:
  • oncotarget-09-7844-s003.xlsx, sheet 1
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: KMT2D: P2557L; rs189888707
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04

Variant appearance in text: KMT2D: 7670C>T; Pro2557Leu
PubMed Link: 28050010
Variant Present in the following documents:
  • srep37984-s2.xls, sheet 1
View BVdb publication page



Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications
Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F
Publication Date: 2016-08-18

Variant appearance in text: rs189888707
PubMed Link: 27534895
Variant Present in the following documents:
  • ncomms12475-s3.xlsx, sheet 1
  • ncomms12475-s2.xlsx, sheet 1
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: KMT2D: P2557L; rs189888707
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 10
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs189888707
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Deep sequencing reveals clonal evolution patterns and mutation events associated with relapse in B-cell lymphomas.

Genome Biology
Jiang, Yanwen Y; Redmond, David D; Nie, Kui K; Eng, Ken W KW; Clozel, Thomas T; Martin, Peter P; Tan, Leonard Hc LH; Melnick, Ari M AM; Tam, Wayne W; Elemento, Olivier O
Publication Date: 2014-08-15

Variant appearance in text: KMT2D: P2557L
PubMed Link: 25123191
Variant Present in the following documents:
  • 13059_2014_432_MOESM8_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: rs189888707
PubMed Link: 24728327
Variant Present in the following documents:
  • pone.0094554.s002.xlsx, sheet 1
View BVdb publication page