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: V1500M; rs397515167

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: TSC2: V1500M

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2

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Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care.

Cancer Medicine

Muller, Etienne E; Brault, Baptiste B; Holmes, Allyson A; Legros, Angelina A; Jeannot, Emmanuelle E; Campitelli, Maura M; Rousselin, Antoine A; Goardon, Nicolas N; Frébourg, Thierry T; Krieger, Sophie S; Crouet, Hubert H; Nicolas, Alain A; Sastre, Xavier X; Vaur, Dominique D; Castéra, Laurent L

Publication Date: 2015-10

Variant appearance in text: TSC2: 4498G>A; Val1500Met; rs397515167

PubMed Link: 26155992

Variant Present in the following documents:

• cam40004-1484-sd2.xlsx, sheet 1

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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: V1500M

PubMed Link: 23514105

Variant Present in the following documents:

• 2040-2392-4-5-S5.xls, sheet 1

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DAXX/ATRX, MEN1, and mTOR pathway genes are frequently altered in pancreatic neuroendocrine tumors.

Science (New York, N.Y.)

Jiao, Yuchen Y; Shi, Chanjuan C; Edil, Barish H BH; de Wilde, Roeland F RF; Klimstra, David S DS; Maitra, Anirban A; Schulick, Richard D RD; Tang, Laura H LH; Wolfgang, Christopher L CL; Choti, Michael A MA; Velculescu, Victor E VE; Diaz, Luis A LA; Vogelstein, Bert B; Kinzler, Kenneth W KW; Hruban, Ralph H RH; Papadopoulos, Nickolas N

Publication Date: 2011-03-04

Variant appearance in text: TSC2: 4498G>A; V1500M

PubMed Link: 21252315

Variant Present in the following documents:

• Main text

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