FH c.521C>G ;(p.P174R)

Variant ID: 1-241675301-G-C

NM_000143.3(FH):c.521C>G;(p.P174R)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: FH: 521C>G; Pro174Arg; rs199822819
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: FH: 521C>G; Pro174Arg
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
  • jamaoncol-e207987-s006.xlsx, sheet 2
View BVdb publication page



Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder.

Molecular Psychiatry
Jia, Xiaoming X; Goes, Fernando S FS; Locke, Adam E AE; Palmer, Duncan D; Wang, Weiqing W; Cohen-Woods, Sarah S; Genovese, Giulio G; Jackson, Anne U AU; Jiang, Chen C; Kvale, Mark M; Mullins, Niamh N; Nguyen, Hoang H; Pirooznia, Mehdi M; Rivera, Margarita M; Ruderfer, Douglas M DM; Shen, Ling L; Thai, Khanh K; Zawistowski, Matthew M; Zhuang, Yongwen Y; Abecasis, Gonçalo G; Akil, Huda H; Bergen, Sarah S; Burmeister, Margit M; Chapman, Sinéad S; DelaBastide, Melissa M; Juréus, Anders A; Kang, Hyun Min HM; Kwok, Pui-Yan PY; Li, Jun Z JZ; Levy, Shawn E SE; Monson, Eric T ET; Moran, Jennifer J; Sobell, Janet J; Watson, Stanley S; Willour, Virginia V; Zöllner, Sebastian S; Adolfsson, Rolf R; Blackwood, Douglas D; Boehnke, Michael M; Breen, Gerome G; Corvin, Aiden A; Craddock, Nick N; DiFlorio, Arianna A; Hultman, Christina M CM; Landen, Mikael M; Lewis, Cathryn C; McCarroll, Steven A SA; Richard McCombie, W W; McGuffin, Peter P; McIntosh, Andrew A; McQuillin, Andrew A; Morris, Derek D; Myers, Richard M RM; O'Donovan, Michael M; Ophoff, Roel R; Boks, Marco M; Kahn, Rene R; Ouwehand, Willem W; Owen, Michael M; Pato, Carlos C; Pato, Michele M; Posthuma, Danielle D; Potash, James B JB; Reif, Andreas A; Sklar, Pamela P; Smoller, Jordan J; Sullivan, Patrick F PF; Vincent, John J; Walters, James J; Neale, Benjamin B; Purcell, Shaun S; Risch, Neil N; Schaefer, Catherine C; Stahl, Eli A EA; Zandi, Peter P PP; Scott, Laura J LJ
Publication Date: 2021-09

Variant appearance in text: FH: P174R
PubMed Link: 33483695
Variant Present in the following documents:
  • 41380_2020_1006_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Popp, Bernt B; Erber, Ramona R; Kraus, Cornelia C; Vasileiou, Georgia G; Hoyer, Juliane J; Burghaus, Stefanie S; Hartmann, Arndt A; Beckmann, Matthias W MW; Reis, André A; Agaimy, Abbas A
Publication Date: 2020-11

Variant appearance in text: FH: 521C>G; Pro174Arg; rs199822819
PubMed Link: 32612247
Variant Present in the following documents:
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 7
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 8
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 3
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 4
  • 41379_2020_596_MOESM2_ESM.xlsx, sheet 5
View BVdb publication page



Monogenic and polygenic inheritance become instruments for clonal selection.

Nature
Loh, Po-Ru PR; Genovese, Giulio G; McCarroll, Steven A SA
Publication Date: 2020-08

Variant appearance in text: rs199822819
PubMed Link: 32581363
Variant Present in the following documents:
  • Main text
  • nihms-1587518.pdf
  • NIHMS1587518-supplement-1587518_Supp_Tab1-23.pdf
View BVdb publication page



TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology
Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA
Publication Date: 2019-10

Variant appearance in text: FH: P174R; rs199822819
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 7
  • pcbi.1007453.s004.xlsx, sheet 2
  • pcbi.1007453.s002.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: FH: 521C>G; P174R
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.

American Journal Of Human Genetics
Whitworth, James J; Smith, Philip S PS; Martin, Jose-Ezequiel JE; West, Hannah H; Luchetti, Andrea A; Rodger, Faye F; Clark, Graeme G; Carss, Keren K; Stephens, Jonathan J; Stirrups, Kathleen K; Penkett, Chris C; Mapeta, Rutendo R; Ashford, Sofie S; Megy, Karyn K; Shakeel, Hassan H; Ahmed, Munaza M; Adlard, Julian J; Barwell, Julian J; Brewer, Carole C; Casey, Ruth T RT; Armstrong, Ruth R; Cole, Trevor T; Evans, Dafydd Gareth DG; Fostira, Florentia F; Greenhalgh, Lynn L; Hanson, Helen H; Henderson, Alex A; Hoffman, Jonathan J; Izatt, Louise L; Kumar, Ajith A; Kwong, Ava A; Lalloo, Fiona F; Ong, Kai Ren KR; Paterson, Joan J; Park, Soo-Mi SM; Chen-Shtoyerman, Rakefet R; Searle, Claire C; Side, Lucy L; Skytte, Anne-Bine AB; Snape, Katie K; Woodward, Emma R ER; , ; Tischkowitz, Marc D MD; Maher, Eamonn R ER
Publication Date: 2018-07-05

Variant appearance in text: FH: 521C>G; Pro174Arg
PubMed Link: 29909963
Variant Present in the following documents:
  • Main text
  • mmc6.xlsx, sheet 1
  • mmc7.pdf
  • main.pdf
View BVdb publication page



Fumarase Deficiency: A Safe and Potentially Disease Modifying Effect of High Fat/Low Carbohydrate Diet.

Jimd Reports
Ryder, B B; Moore, F F; Mitchell, A A; Thompson, S S; Christodoulou, J J; Balasubramaniam, S S
Publication Date: 2018

Variant appearance in text: FH: 521C>G; Pro174Arg
PubMed Link: 29052812
Variant Present in the following documents:
  • Main text
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: FH: 521C>G; Pro174Arg
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Structural basis of fumarate hydratase deficiency.

Journal Of Inherited Metabolic Disease
Picaud, Sarah S; Kavanagh, Kathryn L KL; Yue, Wyatt W WW; Lee, Wen Hwa WH; Muller-Knapp, Susanne S; Gileadi, Opher O; Sacchettini, James J; Oppermann, Udo U
Publication Date: 2011-06

Variant appearance in text: FH: 521C>G; P174R
PubMed Link: 21445611
Variant Present in the following documents:
  • Main text
  • 10545_2011_Article_9294.pdf
View BVdb publication page



The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency.

Bmc Medical Genetics
Bayley, Jean-Pierre JP; Launonen, Virpi V; Tomlinson, Ian P M IP
Publication Date: 2008-03-25

Variant appearance in text: FH: Pro174Arg
PubMed Link: 18366737
Variant Present in the following documents:
  • 1471-2350-9-20.pdf
View BVdb publication page