CEP290 c.6401T>C ;(p.I2134T)

Variant ID: 12-88454728-A-G

NM_025114.3(CEP290):c.6401T>C;(p.I2134T)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Spectrum of Disease Severity in Nonsyndromic Patients With Mutations in the CEP290 Gene: A Multicentric Longitudinal Study.

Investigative Ophthalmology & Visual Science
Testa, Francesco F; Sodi, Andrea A; Signorini, Sabrina S; Di Iorio, Valentina V; Murro, Vittoria V; Brunetti-Pierri, Raffaella R; Valente, Enza Maria EM; Karali, Marianthi M; Melillo, Paolo P; Banfi, Sandro S; Simonelli, Francesca F
Publication Date: 2021-07-01

Variant appearance in text: CEP290: 6401T>C; Ile2134Thr
PubMed Link: 34196655
Variant Present in the following documents:
  • Main text
  • iovs-62-9-1.pdf
View BVdb publication page



Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.

Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019

Variant appearance in text: rs117852025
PubMed Link: 31681433
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 10
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: CEP290: 6401T>C; Ile2134Thr
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.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: CEP290: 6401T>C; Ile2134Thr
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25

Variant appearance in text: CEP290: I2134T; rs117852025
PubMed Link: 28440294
Variant Present in the following documents:
  • srep46105-s2.xls, sheet 6
  • srep46105-s2.xls, sheet 8
View BVdb publication page



Characterizing the morbid genome of ciliopathies.

Genome Biology
Shaheen, Ranad R; Szymanska, Katarzyna K; Basu, Basudha B; Patel, Nisha N; Ewida, Nour N; Faqeih, Eissa E; Al Hashem, Amal A; Derar, Nada N; Alsharif, Hadeel H; Aldahmesh, Mohammed A MA; Alazami, Anas M AM; Hashem, Mais M; Ibrahim, Niema N; Abdulwahab, Firdous M FM; Sonbul, Rawda R; Alkuraya, Hisham H; Alnemer, Maha M; Al Tala, Saeed S; Al-Husain, Muneera M; Morsy, Heba H; Seidahmed, Mohammed Zain MZ; Meriki, Neama N; Al-Owain, Mohammed M; AlShahwan, Saad S; Tabarki, Brahim B; Salih, Mustafa A MA; , ; Faquih, Tariq T; El-Kalioby, Mohamed M; Ueffing, Marius M; Boldt, Karsten K; Logan, Clare V CV; Parry, David A DA; Al Tassan, Nada N; Monies, Dorota D; Megarbane, Andre A; Abouelhoda, Mohamed M; Halees, Anason A; Johnson, Colin A CA; Alkuraya, Fowzan S FS
Publication Date: 2016-11-28

Variant appearance in text: rs117852025
PubMed Link: 27894351
Variant Present in the following documents:
  • 13059_2016_1099_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.

American Journal Of Human Genetics
Lindstrand, Anna A; Frangakis, Stephan S; Carvalho, Claudia M B CM; Richardson, Ellen B EB; McFadden, Kelsey A KA; Willer, Jason R JR; Pehlivan, Davut D; Liu, Pengfei P; Pediaditakis, Igor L IL; Sabo, Aniko A; Lewis, Richard Alan RA; Banin, Eyal E; Lupski, James R JR; Davis, Erica E EE; Katsanis, Nicholas N
Publication Date: 2016-08-04

Variant appearance in text: CEP290: 6401T>C; Ile2134Thr
PubMed Link: 27486776
Variant Present in the following documents:
  • Main text
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: CEP290: 6401T>C; I2134T; rs117852025
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Clonal relationships between lobular carcinoma in situ and other breast malignancies.

Breast Cancer Research : Bcr
Begg, Colin B CB; Ostrovnaya, Irina I; Carniello, Jose V Scarpa JV; Sakr, Rita A RA; Giri, Dilip D; Towers, Russell R; Schizas, Michail M; De Brot, Marina M; Andrade, Victor P VP; Mauguen, Audrey A; Seshan, Venkatraman E VE; King, Tari A TA
Publication Date: 2016-06-23

Variant appearance in text: CEP290: I2134T
PubMed Link: 27334989
Variant Present in the following documents:
  • 13058_2016_727_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.

American Journal Of Human Genetics
Srour, Myriam M; Hamdan, Fadi F FF; McKnight, Dianalee D; Davis, Erica E; Mandel, Hanna H; Schwartzentruber, Jeremy J; Martin, Brissa B; Patry, Lysanne L; Nassif, Christina C; Dionne-Laporte, Alexandre A; Ospina, Luis H LH; Lemyre, Emmanuelle E; Massicotte, Christine C; Laframboise, Rachel R; Maranda, Bruno B; Labuda, Damian D; Décarie, Jean-Claude JC; Rypens, Françoise F; Goldsher, Dorith D; Fallet-Bianco, Catherine C; Soucy, Jean-François JF; Laberge, Anne-Marie AM; Maftei, Catalina C; , ; Boycott, Kym K; Brais, Bernard B; Boucher, Renée-Myriam RM; Rouleau, Guy A GA; Katsanis, Nicholas N; Majewski, Jacek J; Elpeleg, Orly O; Kukolich, Mary K MK; Shalev, Stavit S; Michaud, Jacques L JL
Publication Date: 2015-11-05

Variant appearance in text: CEP290: 6401T>C; Ile2134Thr
PubMed Link: 26477546
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: CEP290: I2134T; rs117852025
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Mutation screening of retinal dystrophy patients by targeted capture from tagged pooled DNAs and next generation sequencing.

Plos One
Watson, Christopher M CM; El-Asrag, Mohammed M; Parry, David A DA; Morgan, Joanne E JE; Logan, Clare V CV; Carr, Ian M IM; Sheridan, Eamonn E; Charlton, Ruth R; Johnson, Colin A CA; Taylor, Graham G; Toomes, Carmel C; McKibbin, Martin M; Inglehearn, Chris F CF; Ali, Manir M
Publication Date: 2014

Variant appearance in text: CEP290: 6401T>C; Ile2134Thr
PubMed Link: 25133751
Variant Present in the following documents:
  • pone.0104281.s001.pdf
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: CEP290: I2134T
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-7.xlsx, sheet 1
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page