MYBPC3 c.1544A>G ;(p.N515S)

Variant ID: 11-47364209-T-C

NM_000256.3(MYBPC3):c.1544A>G;(p.N515S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Protein haploinsufficiency drivers identify MYBPC3 variants that cause hypertrophic cardiomyopathy.

The Journal Of Biological Chemistry
Suay-Corredera, Carmen C; Pricolo, Maria Rosaria MR; Herrero-Galán, Elías E; Velázquez-Carreras, Diana D; Sánchez-Ortiz, David D; García-Giustiniani, Diego D; Delgado, Javier J; Galano-Frutos, Juan José JJ; García-Cebollada, Helena H; Vilches, Silvia S; Domínguez, Fernando F; Molina, María Sabater MS; Barriales-Villa, Roberto R; Frisso, Giulia G; Sancho, Javier J; Serrano, Luis L; García-Pavía, Pablo P; Monserrat, Lorenzo L; Alegre-Cebollada, Jorge J
Publication Date: 2021-07

Variant appearance in text: MYBPC3: 1544A>G
PubMed Link: 34097875
Variant Present in the following documents:
  • mmc1.pdf
  • mmc2.xlsx, sheet 1
View BVdb publication page



Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Circulation. Genomic And Precision Medicine
Helms, Adam S AS; Thompson, Andrea D AD; Glazier, Amelia A AA; Hafeez, Neha N; Kabani, Samat S; Rodriguez, Juliani J; Yob, Jaime M JM; Woolcock, Helen H; Mazzarotto, Francesco F; Lakdawala, Neal K NK; Wittekind, Samuel G SG; Pereira, Alexandre C AC; Jacoby, Daniel L DL; Colan, Steven D SD; Ashley, Euan A EA; Saberi, Sara S; Ware, James S JS; Ingles, Jodie J; Semsarian, Christopher C; Michels, Michelle M; Olivotto, Iacopo I; Ho, Carolyn Y CY; Day, Sharlene M SM
Publication Date: 2020-10

Variant appearance in text: MYBPC3: 1544A>G; Asn515Ser
PubMed Link: 32841044
Variant Present in the following documents:
  • hcg-13-396-s001.pdf
View BVdb publication page



REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Publication Date: 2019-09-04

Variant appearance in text: MYBPC3: 1544A>G; N515S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_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: MYBPC3: 1544A>G; Asn515Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Population-based variation in cardiomyopathy genes.

Circulation. Cardiovascular Genetics
Golbus, Jessica R JR; Puckelwartz, Megan J MJ; Fahrenbach, John P JP; Dellefave-Castillo, Lisa M LM; Wolfgeher, Don D; McNally, Elizabeth M EM
Publication Date: 2012-08-01

Variant appearance in text: MYBPC3: N515S
PubMed Link: 22763267
Variant Present in the following documents:
  • Main text
View BVdb publication page