FBN1 c.6700G>A ;(p.V2234M)

Variant ID: 15-48725102-C-T

NM_000138.4(FBN1):c.6700G>A;(p.V2234M)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: FBN1: V2234M; rs112084407
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
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: 6700G>A; V2234M
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: FBN1: 6700G>A; V2234M; rs112084407
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-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: FBN1: 6700G>A; Val2234Met
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Determination of disease phenotypes and pathogenic variants from exome sequence data in the CAGI 4 gene panel challenge.

Human Mutation
Kundu, Kunal K; Pal, Lipika R LR; Yin, Yizhou Y; Moult, John J
Publication Date: 2017-09

Variant appearance in text: FBN1: 6700G>A; V2234M
PubMed Link: 28497567
Variant Present in the following documents:
  • Main text
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: rs112084407
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: 6700G>A; V2234M; rs112084407
PubMed Link: 24941995
Variant Present in the following documents:
  • Main text
  • 1471-2156-15-74.pdf
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: FBN1: V2234M
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page