Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TSC2: N958S; rs397515104

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Kidney cancer PDOXs reveal patient-specific pro-malignant effects of antiangiogenics and its molecular traits.

Embo Molecular Medicine

Moserle, Lidia L; Pons, Roser R; Martínez-Lozano, Mar M; Jiménez-Valerio, Gabriela A GA; Vidal, August A; Suárez, Cristina C; Trilla, Enrique E; Jiménez, José J; de Torres, Inés I; Carles, Joan J; Senserrich, Jordi J; Aguilar, Susana S; Palomero, Luis L; Amadori, Alberto A; Casanovas, Oriol O

Publication Date: 2020-12-07

Variant appearance in text: rs397515104

PubMed Link: 33151035

Variant Present in the following documents:

• EMMM-12-e11889-s001.pdf

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Toward automation of germline variant curation in clinical cancer genetics.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: TSC2: 2837+1048A>G; Asn958Ser

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 6

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Variants Within TSC2 Exons 25 and 31 Are Very Unlikely to Cause Clinically Diagnosable Tuberous Sclerosis.

Human Mutation

Ekong, Rosemary R; Nellist, Mark M; Hoogeveen-Westerveld, Marianne M; Wentink, Marjolein M; Panzer, Jessica J; Sparagana, Steven S; Emmett, Warren W; Dawson, Natalie L NL; Malinge, Marie Claire MC; Nabbout, Rima R; Carbonara, Caterina C; Barberis, Marco M; Padovan, Sergio S; Futema, Marta M; Plagnol, Vincent V; Humphries, Steve E SE; Migone, Nicola N; Povey, Sue S

Publication Date: 2016-04

Variant appearance in text: TSC2: N958S

PubMed Link: 26703369

Variant Present in the following documents:

• Main text
• HUMU-37-364.pdf

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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism

Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V

Publication Date: 2013-03-20

Variant appearance in text: TSC2: N958S

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

View BVdb publication page