CASQ2 c.928G>A ;(p.D310N)

Variant ID: 1-116247824-C-T

NM_001232.3(CASQ2):c.928G>A;(p.D310N)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes.

Biomolecules
Mazzaccara, Cristina C; Lombardi, Raffaella R; Mirra, Bruno B; Barretta, Ferdinando F; Esposito, Maria Valeria MV; Uomo, Fabiana F; Caiazza, Martina M; Monda, Emanuele E; Losi, Maria Angela MA; Limongelli, Giuseppe G; D'Argenio, Valeria V; Frisso, Giulia G
Publication Date: 2022-10-03

Variant appearance in text: CASQ2: 928G>A; Asp310Asn; rs141314684
PubMed Link: 36291626
Variant Present in the following documents:
  • biomolecules-12-01417.pdf
View BVdb publication page



1029 genomes of self-declared healthy individuals from India reveal prevalent and clinically relevant cardiac ion channelopathy variants.

Human Genomics
Bajaj, Anjali A; Senthivel, Vigneshwar V; Bhoyar, Rahul R; Jain, Abhinav A; Imran, Mohamed M; Rophina, Mercy M; Divakar, Mohit Kumar MK; Jolly, Bani B; Verma, Ankit A; Mishra, Anushree A; Sharma, Disha D; Deepti, Siddharthan S; Sharma, Gautam G; Bansal, Raghav R; Yadav, Rakesh R; Scaria, Vinod V; Naik, Nitish N; Sivasubbu, Sridhar S
Publication Date: 2022-08-05

Variant appearance in text: CASQ2: 928G>A; D310N; rs141314684
PubMed Link: 35932045
Variant Present in the following documents:
  • 40246_2022_402_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: CASQ2: Asp310Asn; rs141314684
PubMed Link: 35504881
Variant Present in the following documents:
  • 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



An International Multicenter Evaluation of Inheritance Patterns, Arrhythmic Risks, and Underlying Mechanisms of CASQ2-Catecholaminergic Polymorphic Ventricular Tachycardia.

Circulation
Ng, Kevin K; Titus, Erron W EW; Lieve, Krystien V KV; Roston, Thomas M TM; Mazzanti, Andrea A; Deiter, Frederick H FH; Denjoy, Isabelle I; Ingles, Jodie J; Till, Jan J; Robyns, Tomas T; Connors, Sean P SP; Steinberg, Christian C; Abrams, Dominic J DJ; Pang, Benjamin B; Scheinman, Melvin M MM; Bos, J Martijn JM; Duffett, Stephen A SA; van der Werf, Christian C; Maltret, Alice A; Green, Martin S MS; Rutberg, Julie J; Balaji, Seshadri S; Cadrin-Tourigny, Julia J; Orland, Kate M KM; Knight, Linda M LM; Brateng, Caitlin C; Wu, Jeremy J; Tang, Anthony S AS; Skanes, Allan C AC; Manlucu, Jaimie J; Healey, Jeff S JS; January, Craig T CT; Krahn, Andrew D AD; Collins, Kathryn K KK; Maginot, Kathleen R KR; Fischbach, Peter P; Etheridge, Susan P SP; Eckhardt, Lee L LL; Hamilton, Robert M RM; Ackerman, Michael J MJ; Noguer, Ferran Rosés I FRI; Semsarian, Christopher C; Jura, Natalia N; Leenhardt, Antoine A; Gollob, Michael H MH; Priori, Silvia G SG; Sanatani, Shubhayan S; Wilde, Arthur A M AAM; Deo, Rahul C RC; Roberts, Jason D JD
Publication Date: 2020-09-08

Variant appearance in text: CASQ2: D310N
PubMed Link: 32693635
Variant Present in the following documents:
  • Main text
View BVdb publication page



Large next-generation sequencing gene panels in genetic heart disease: yield of pathogenic variants and variants of unknown significance.

Netherlands Heart Journal : Monthly Journal Of The Netherlands Society Of Cardiology And The Netherlands Heart Foundation
van Lint, F H M FHM; Mook, O R F ORF; Alders, M M; Bikker, H H; Lekanne Dit Deprez, R H RH; Christiaans, I I
Publication Date: 2019-06

Variant appearance in text: CASQ2: 928G>A; Asp310Asn; rs141314684
PubMed Link: 30847666
Variant Present in the following documents:
  • 12471_2019_1250_MOESM2_ESM.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: CASQ2: 928G>A; Asp310Asn
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals.

Circulation. Arrhythmia And Electrophysiology
Landstrom, Andrew P AP; Dailey-Schwartz, Andrew L AL; Rosenfeld, Jill A JA; Yang, Yaping Y; McLean, Margaret J MJ; Miyake, Christina Y CY; Valdes, Santiago O SO; Fan, Yuxin Y; Allen, Hugh D HD; Penny, Daniel J DJ; Kim, Jeffrey J JJ
Publication Date: 2017-04

Variant appearance in text: CASQ2: D310N
PubMed Link: 28404607
Variant Present in the following documents:
  • Main text
View BVdb publication page



Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One
Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R
Publication Date: 2016

Variant appearance in text: CASQ2: 928G>A; D310N; rs141314684
PubMed Link: 27930701
Variant Present in the following documents:
  • Main text
  • pone.0167358.pdf
View BVdb publication page



Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Cardiovascular Research
Behr, Elijah R ER; Savio-Galimberti, Eleonora E; Barc, Julien J; Holst, Anders G AG; Petropoulou, Evmorfia E; Prins, Bram P BP; Jabbari, Javad J; Torchio, Margherita M; Berthet, Myriam M; Mizusawa, Yuka Y; Yang, Tao T; Nannenberg, Eline A EA; Dagradi, Federica F; Weeke, Peter P; Bastiaenan, Rachel R; Ackerman, Michael J MJ; Haunso, Stig S; Leenhardt, Antoine A; Kääb, Stefan S; Probst, Vincent V; Redon, Richard R; Sharma, Sanjay S; Wilde, Arthur A; Tfelt-Hansen, Jacob J; Schwartz, Peter P; Roden, Dan M DM; Bezzina, Connie R CR; Olesen, Morten M; Darbar, Dawood D; Guicheney, Pascale P; Crotti, Lia L; , ; Jamshidi, Yalda Y
Publication Date: 2015-06-01

Variant appearance in text: CASQ2: D310N; rs141314684
PubMed Link: 25691538
Variant Present in the following documents:
  • Main text
View BVdb publication page