FBN1 c.7754T>C ;(p.I2585T)

Variant ID: 15-48712949-A-G

NM_000138.4(FBN1):c.7754T>C;(p.I2585T)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Rare Coding Variants in Patients with Non-Syndromic Vestibular Dysfunction.

Genes
Sumalde, Angelo Augusto M AAM; Scholes, Melissa A MA; Kalmanson, Olivia A OA; Terhune, Elizabeth A EA; Frejo, Lidia L; Wethey, Cambria I CI; Roman-Naranjo, Pablo P; Carry, Patrick M PM; Gubbels, Samuel P SP; Lopez-Escamez, Jose A JA; Hadley-Miller, Nancy N; Santos-Cortez, Regie Lyn P RLP
Publication Date: 2023-03-30

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 37107589
Variant Present in the following documents:
  • Main text
  • genes-14-00831.pdf
View BVdb publication page



Association Between Genetic Diagnosis and Clinical Outcomes in Patients With Heritable Thoracic Aortic Disease.

Journal Of The American Heart Association
Yagyu, Takeshi T; Noguchi, Teruo T; Asano, Yoshihiro Y; Ida, Kazufumi K; Ogata, Soshiro S; Nishimura, Kunihiro K; Matsuda, Hitoshi H
Publication Date: 2023-04-12

Variant appearance in text: FBN1: Ile2585Thr; rs727503054
PubMed Link: 37042257
Variant Present in the following documents:
  • JAH3-12-e028625-s001.pdf
  • JAH3-12-e028625.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Monogenic Versus Multifactorial Inheritance in the Development of Isolated Cleft Palate: A Whole Genome Sequencing Study.

Frontiers In Genetics
Lace, Baiba B; Pajusalu, Sander S; Livcane, Diana D; Grinfelde, Ieva I; Akota, Ilze I; Mauliņa, Ieva I; Barkāne, Biruta B; Stavusis, Janis J; Inashkina, Inna I
Publication Date: 2022

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 35281813
Variant Present in the following documents:
  • Main text
  • fgene-13-828534.pdf
View BVdb publication page



Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Meester, Josephina A N JAN; Peeters, Silke S; Van Den Heuvel, Lotte L; Vandeweyer, Geert G; Fransen, Erik E; Cappella, Elizabeth E; Dietz, Harry C HC; Forbus, Geoffrey G; Gelb, Bruce D BD; Goldmuntz, Elizabeth E; Hoskoppal, Arvind A; Landstrom, Andrew P AP; Lee, Teresa T; Mital, Seema S; Morris, Shaine S; Olson, Aaron K AK; Renard, Marjolijn M; Roden, Dan M DM; Singh, Michael N MN; Selamet Tierney, Elif Seda ES; Tretter, Justin T JT; Van Driest, Sara L SL; Willing, Marcia M; Verstraeten, Aline A; Van Laer, Lut L; Lacro, Ronald V RV; Loeys, Bart L BL
Publication Date: 2022-05

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 35058154
Variant Present in the following documents:
  • NIHMS1850106-supplement-Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Impact of pathogenic FBN1 variant types on the development of severe scoliosis in patients with Marfan syndrome.

Journal Of Medical Genetics
Taniguchi, Yuki Y; Takeda, Norifumi N; Inuzuka, Ryo R; Matsubayashi, Yoshitaka Y; Kato, So S; Doi, Toru T; Yagi, Hiroki H; Yamauchi, Haruo H; Ando, Masahiko M; Oshima, Yasushi Y; Tanaka, Sakae S
Publication Date: 2021-12-16

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr; rs727503054
PubMed Link: 34916231
Variant Present in the following documents:
  • jmedgenet-2021-108186supp001.pdf
View BVdb publication page



Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.

Scientific Reports
Rowlands, Charlie C; Thomas, Huw B HB; Lord, Jenny J; Wai, Htoo A HA; Arno, Gavin G; Beaman, Glenda G; Sergouniotis, Panagiotis P; Gomes-Silva, Beatriz B; Campbell, Christopher C; Gossan, Nicole N; Hardcastle, Claire C; Webb, Kevin K; O'Callaghan, Christopher C; Hirst, Robert A RA; Ramsden, Simon S; Jones, Elizabeth E; Clayton-Smith, Jill J; Webster, Andrew R AR; , ; Douglas, Andrew G L AGL; O'Keefe, Raymond T RT; Newman, William G WG; Baralle, Diana D; Black, Graeme C M GCM; Ellingford, Jamie M JM
Publication Date: 2021-10-18

Variant appearance in text: FBN1: 7754T>C
PubMed Link: 34663891
Variant Present in the following documents:
  • 41598_2021_99747_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine
Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J
Publication Date: 2021-10

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 34498425
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine
Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J
Publication Date: 2021-10

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 34498425
Variant Present in the following documents:
  • Main text
View BVdb publication page



Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk.

Bmc Cardiovascular Disorders
Ma, Mingjia M; Li, Zongzhe Z; Mohamed, Mohamed Abdulkadir MA; Liu, Ligang L; Wei, Xiang X
Publication Date: 2021-08-30

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 34461831
Variant Present in the following documents:
  • 12872_2021_2215_MOESM1_ESM.pdf
View BVdb publication page



Analysis of the contribution of 129 candidate genes to thoracic aortic aneurysm or dissection of a mixed cohort of sporadic and familial cases in South China.

American Journal Of Translational Research
Li, Ying Y; Fang, Miaoxian M; Yang, Jue J; Yu, Changjiang C; Kuang, Juntao J; Sun, Tucheng T; Fan, Ruixin R
Publication Date: 2021

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 34150014
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential diagnosis of Marfan syndrome based on ocular biologic parameters.

Annals Of Translational Medicine
Wang, Yiyao Y; Lian, Zhangkai Z; Zhou, Yijing Y; Li, Xuepei X; Wu, Jieyi J; Zhang, Xinyu X; Jin, Guangming G; Zheng, Danying D
Publication Date: 2020-11

Variant appearance in text: FBN1: 7754T>C
PubMed Link: 33313099
Variant Present in the following documents:
  • atm-08-21-1354-supplementary.pdf
View BVdb publication page



A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wenger, Brittany M BM; Patel, Nihir N; Lui, Madeline M; Moscati, Arden A; Do, Ron R; Stewart, Douglas R DR; Tartaglia, Marco M; Muiño-Mosquera, Laura L; De Backer, Julie J; Kontorovich, Amy R AR; Gelb, Bruce D BD
Publication Date: 2021-01

Variant appearance in text: FBN1: I2585T
PubMed Link: 32989268
Variant Present in the following documents:
  • NIHMS1638647-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
View BVdb publication page



The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Daich Varela, Malena M; Jani, Priyam P; Zein, Wadih M WM; D'Souza, Precilla P; Wolfe, Lynne L; Chisholm, Jennifer J; Zalewski, Christopher C; Adams, David D; Warner, Blake M BM; Huryn, Laryssa A LA; Hufnagel, Robert B RB
Publication Date: 2020-09

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 32866347
Variant Present in the following documents:
  • Main text
View BVdb publication page



Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances
Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X
Publication Date: 2020-07

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 32832622
Variant Present in the following documents:
  • aba1773_Data_file_S1.xlsx, sheet 2
View BVdb publication page



Frequency of genomic secondary findings among 21,915 eMERGE network participants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
,
Publication Date: 2020-09

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 32546831
Variant Present in the following documents:
  • NIHMS1615423-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wai, Htoo A HA; Lord, Jenny J; Lyon, Matthew M; Gunning, Adam A; Kelly, Hugh H; Cibin, Penelope P; Seaby, Eleanor G EG; Spiers-Fitzgerald, Kerry K; Lye, Jed J; Ellard, Sian S; Thomas, N Simon NS; Bunyan, David J DJ; Douglas, Andrew G L AGL; Baralle, Diana D; ,
Publication Date: 2020-06

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr; rs727503054
PubMed Link: 32123317
Variant Present in the following documents:
  • 41436_2020_766_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09

Variant appearance in text: FBN1: 7754T>C; I2585T
PubMed Link: 31819097
Variant Present in the following documents:
  • 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9
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: FBN1: 7754T>C; I2585T
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



FBN1 Coding Variants and Nonsyndromic Aortic Disease.

Circulation. Genomic And Precision Medicine
Damrauer, Scott M SM; Hardie, Kara K; Kember, Rachel L RL; Judy, Renae R; Birtwell, David D; Williams, Heather H; Rader, Daniel J DJ; Pyeritz, Reed E RE
Publication Date: 2019-06

Variant appearance in text: FBN1: I2585T
PubMed Link: 31211626
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.

Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 31165590
Variant Present in the following documents:
  • MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page



Soluble EMMPRIN levels discriminate aortic ectasia in Marfan syndrome patients.

Theranostics
Rurali, Erica E; Perrucci, Gianluca L GL; Gaetano, Raffaella R; Pini, Alessandro A; Moschetta, Donato D; Gentilini, Davide D; Nigro, Patrizia P; Pompilio, Giulio G
Publication Date: 2019

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 31149040
Variant Present in the following documents:
  • thnov09p2224s1.pdf
View BVdb publication page



The importance of genotype-phenotype correlation in the clinical management of Marfan syndrome.

Orphanet Journal Of Rare Diseases
Becerra-Muñoz, Víctor Manuel VM; Gómez-Doblas, Juan José JJ; Porras-Martín, Carlos C; Such-Martínez, Miguel M; Crespo-Leiro, María Generosa MG; Barriales-Villa, Roberto R; de Teresa-Galván, Eduardo E; Jiménez-Navarro, Manuel M; Cabrera-Bueno, Fernando F
Publication Date: 2018-01-22

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 29357934
Variant Present in the following documents:
  • Main text
  • 13023_2017_Article_754.pdf
View BVdb publication page



Identification of Novel Clinically Relevant Variants in 70 Southern Chinese patients with Thoracic Aortic Aneurysm and Dissection by Next-generation Sequencing.

Scientific Reports
Fang, Miaoxian M; Yu, Changjiang C; Chen, Siyao S; Xiong, Weiping W; Li, Xin X; Zeng, Rong R; Zhuang, Jian J; Fan, Ruixin R
Publication Date: 2017-08-30

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 28855619
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_9785.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: 7754T>C; Ile2585Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.

Plos One
LaDuca, Holly H; Farwell, Kelly D KD; Vuong, Huy H; Lu, Hsiao-Mei HM; Mu, Wenbo W; Shahmirzadi, Layla L; Tang, Sha S; Chen, Jefferey J; Bhide, Shruti S; Chao, Elizabeth C EC
Publication Date: 2017

Variant appearance in text: FBN1: 7754T>C; I2585T
PubMed Link: 28152038
Variant Present in the following documents:
  • pone.0170843.s004.xlsx, sheet 1
  • pone.0170843.s003.xlsx, sheet 1
View BVdb publication page



Genetic testing of 248 Chinese aortopathy patients using a panel assay.

Scientific Reports
Yang, Hang H; Luo, Mingyao M; Fu, Yuanyuan Y; Cao, Yandong Y; Yin, Kunlun K; Li, Wenke W; Meng, Chunjie C; Ma, Yanyun Y; Zhang, Jing J; Fan, Yuxin Y; Shu, Chang C; Chang, Qian Q; Zhou, Zhou Z
Publication Date: 2016-09-09

Variant appearance in text: FBN1: 7754T>C; Ile2585Thr
PubMed Link: 27611364
Variant Present in the following documents:
  • Main text
  • srep33002.pdf
View BVdb publication page



Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Journal Of Translational Medicine
Poninska, J K JK; Bilinska, Z T ZT; Franaszczyk, M M; Michalak, E E; Rydzanicz, M M; Szpakowski, E E; Pollak, A A; Milanowska, B B; Truszkowska, G G; Chmielewski, P P; Sioma, A A; Janaszek-Sitkowska, H H; Klisiewicz, A A; Michalowska, I I; Makowiecka-Ciesla, M M; Kolsut, P P; Stawinski, P P; Foss-Nieradko, B B; Szperl, M M; Grzybowski, J J; Hoffman, P P; Januszewicz, A A; Kusmierczyk, M M; Ploski, R R
Publication Date: 2016-05-04

Variant appearance in text: FBN1: 7754T>C; I2585T
PubMed Link: 27146836
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_870.pdf
View BVdb publication page



Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis.

The Journal Of Bone And Joint Surgery. American Volume
Haller, Gabe G; Alvarado, David M DM; Willing, Marcia C MC; Braverman, Alan C AC; Bridwell, Keith H KH; Kelly, Michael M; Lenke, Lawrence G LG; Luhmann, Scott J SJ; Gurnett, Christina A CA; Dobbs, Matthew B MB
Publication Date: 2015-09-02

Variant appearance in text: FBN1: I2585T
PubMed Link: 26333736
Variant Present in the following documents:
  • Main text
View BVdb publication page



Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.

Human Molecular Genetics
Buchan, Jillian G JG; Alvarado, David M DM; Haller, Gabe E GE; Cruchaga, Carlos C; Harms, Matthew B MB; Zhang, Tianxiao T; Willing, Marcia C MC; Grange, Dorothy K DK; Braverman, Alan C AC; Miller, Nancy H NH; Morcuende, Jose A JA; Tang, Nelson Leung-Sang NL; Lam, Tsz-Ping TP; Ng, Bobby Kin-Wah BK; Cheng, Jack Chun-Yiu JC; Dobbs, Matthew B MB; Gurnett, Christina A CA
Publication Date: 2014-10-01

Variant appearance in text: FBN1: Ile2585Thr
PubMed Link: 24833718
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene.

European Journal Of Human Genetics : Ejhg
Stheneur, Chantal C; Collod-Béroud, Gwenaëlle G; Faivre, Laurence L; Buyck, Jean François JF; Gouya, Laurent L; Le Parc, Jean-Marie JM; Moura, Bertrand B; Muti, Christine C; Grandchamp, Bernard B; Sultan, Gilles G; Claustres, Mireille M; Aegerter, Philippe P; Chevallier, Bertrand B; Jondeau, Guillaume G; Boileau, Catherine C
Publication Date: 2009-09

Variant appearance in text: FBN1: 7754T>C
PubMed Link: 19293843
Variant Present in the following documents:
  • Main text
View BVdb publication page