MYBPC3 c.3413G>C ;(p.R1138P)

Variant ID: 11-47354442-C-G

NM_000256.3(MYBPC3):c.3413G>C;(p.R1138P)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.

Diagnostics (Basel, Switzerland)
Micheu, Miruna Mihaela MM; Popa-Fotea, Nicoleta-Monica NM; Oprescu, Nicoleta N; Bogdan, Stefan S; Dan, Monica M; Deaconu, Alexandru A; Dorobantu, Lucian L; Gheorghe-Fronea, Oana O; Greavu, Maria M; Iorgulescu, Corneliu C; Scafa-Udriste, Alexandru A; Ticulescu, Razvan R; Vatasescu, Radu Gabriel RG; Dorobanțu, Maria M
Publication Date: 2020-12-07

Variant appearance in text: MYBPC3: 3413G>C; Arg1138Pro; rs187705120
PubMed Link: 33297573
Variant Present in the following documents:
  • Main text
  • diagnostics-10-01061.pdf
View BVdb publication page



Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.

Journal Of Clinical Immunology
Partanen, Terhi T; Chen, Jie J; Lehtonen, Johanna J; Kuismin, Outi O; Rusanen, Harri H; Vapalahti, Olli O; Vaheri, Antti A; Anttila, Veli-Jukka VJ; Bode, Michaela M; Hautala, Nina N; Vuorinen, Tytti T; Glumoff, Virpi V; Kraatari, Minna M; Åström, Pirjo P; Saarela, Janna J; Kauma, Heikki H; Lorenzo, Lazaro L; Casanova, Jean-Laurent JL; Zhang, Shen-Ying SY; Seppänen, Mikko M; Hautala, Timo T
Publication Date: 2020-11

Variant appearance in text: rs187705120
PubMed Link: 32936395
Variant Present in the following documents:
  • Main text
  • 10875_2020_Article_834.pdf
View BVdb publication page



The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Archives Of Medical Science : Ams
Bonaventura, Jiří J; Norambuena, Patricia P; Tomašov, Pavol P; Jindrová, Denisa D; Šedivá, Hana H; Macek, Milan M; Veselka, Josef J
Publication Date: 2019-05

Variant appearance in text: MYBPC3: 3413G>C; Arg1138Pro
PubMed Link: 31110529
Variant Present in the following documents:
  • AMS-15-33903-S1.pdf
View BVdb publication page



Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation
Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I
Publication Date: 2018-10-02

Variant appearance in text: MYBPC3: 3413G>C; Arg1138Pro
PubMed Link: 30297972
Variant Present in the following documents:
  • cir-138-1387-s001.pdf
View BVdb publication page



Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Mazzarotto, Francesco F; Girolami, Francesca F; Boschi, Beatrice B; Barlocco, Fausto F; Tomberli, Alessia A; Baldini, Katia K; Coppini, Raffaele R; Tanini, Ilaria I; Bardi, Sara S; Contini, Elisa E; Cecchi, Franco F; Pelo, Elisabetta E; Cook, Stuart A SA; Cerbai, Elisabetta E; Poggesi, Corrado C; Torricelli, Francesca F; Walsh, Roddy R; Olivotto, Iacopo I
Publication Date: 2019-02

Variant appearance in text: MYBPC3: 3413G>C; R1138P
PubMed Link: 29875424
Variant Present in the following documents:
  • 41436_2018_46_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

Plos One
Mademont-Soler, Irene I; Mates, Jesus J; Yotti, Raquel R; Espinosa, Maria Angeles MA; Pérez-Serra, Alexandra A; Fernandez-Avila, Ana Isabel AI; Coll, Monica M; Méndez, Irene I; Iglesias, Anna A; Del Olmo, Bernat B; Riuró, Helena H; Cuenca, Sofía S; Allegue, Catarina C; Campuzano, Oscar O; Picó, Ferran F; Ferrer-Costa, Carles C; Álvarez, Patricia P; Castillo, Sergio S; Garcia-Pavia, Pablo P; Gonzalez-Lopez, Esther E; Padron-Barthe, Laura L; Díaz de Bustamante, Aranzazu A; Darnaude, María Teresa MT; González-Hevia, José Ignacio JI; Brugada, Josep J; Fernandez-Aviles, Francisco F; Brugada, Ramon R
Publication Date: 2017

Variant appearance in text: MYBPC3: 3413G>C; R1138P; rs187705120
PubMed Link: 28771489
Variant Present in the following documents:
  • pone.0181465.s002.xlsx, sheet 1
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: MYBPC3: 3413G>C; Arg1138Pro
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: MYBPC3: R1138P
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

Journal Of The American College Of Cardiology
Coppini, Raffaele R; Ho, Carolyn Y CY; Ashley, Euan E; Day, Sharlene S; Ferrantini, Cecilia C; Girolami, Francesca F; Tomberli, Benedetta B; Bardi, Sara S; Torricelli, Francesca F; Cecchi, Franco F; Mugelli, Alessandro A; Poggesi, Corrado C; Tardiff, Jil J; Olivotto, Iacopo I
Publication Date: 2014-12-23

Variant appearance in text: MYBPC3: 3413G>C; Arg1138Pro
PubMed Link: 25524337
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page