FBN1 c.59A>G ;(p.Y20C)

Variant ID: 15-48936908-T-C

NM_000138.4(FBN1):c.59A>G;(p.Y20C)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


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: FBN1: 59A>G; Y20C
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Weerakkody, Ruwan R; Ross, David D; Parry, David A DA; Ziganshin, Bulat B; Vandrovcova, Jana J; Gampawar, Piyush P; Abdullah, Abdulshakur A; Biggs, Jennifer J; Dumfarth, Julia J; Ibrahim, Yousef Y; , ; Bicknell, Colin C; Field, Mark M; Elefteriades, John J; Cheshire, Nick N; Aitman, Timothy J TJ
Publication Date: 2018-11

Variant appearance in text: FBN1: 59A>G; Tyr20Cys
PubMed Link: 29543232
Variant Present in the following documents:
  • Main text
  • emss-76135.pdf
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: FBN1: 59A>G; Tyr20Cys
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: FBN1: 59A>G; Y20C
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

Human Genetics
van de Luijtgaarden, Koen M KM; Heijsman, Daphne D; Maugeri, Alessandra A; Weiss, Marjan M MM; Verhagen, Hence J M HJ; IJpma, Arne A; Brüggenwirth, Hennie T HT; Majoor-Krakauer, Danielle D
Publication Date: 2015-08

Variant appearance in text: FBN1: 59A>G; Tyr20Cys; rs201309310
PubMed Link: 26017485
Variant Present in the following documents:
  • Main text
  • 439_2015_Article_1567.pdf
View BVdb publication page



Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One
Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E
Publication Date: 2015

Variant appearance in text: FBN1: Y20C
PubMed Link: 25807536
Variant Present in the following documents:
  • pone.0121644.s002.xls, sheet 1
View BVdb publication page



New population-based exome data question the pathogenicity of some genetic variants previously associated with Marfan syndrome.

Bmc Genetics
Yang, Ren-Qiang RQ; Jabbari, Javad J; Cheng, Xiao-Shu XS; Jabbari, Reza R; Nielsen, Jonas B JB; Risgaard, Bjarke B; Chen, Xu X; Sajadieh, Ahmad A; Haunsø, Stig S; Svendsen, Jesper Hastrup JH; Olesen, Morten S MS; Tfelt-Hansen, Jacob J
Publication Date: 2014-06-18

Variant appearance in text: FBN1: 59A>G; Y20C; rs201309310
PubMed Link: 24941995
Variant Present in the following documents:
  • Main text
  • 1471-2156-15-74.pdf
View BVdb publication page