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: DNMT3A: R38L; rs369618387

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Tuberous sclerosis complex: a complex case.

Cold Spring Harbor Molecular Case Studies

Powell, Ryan M RM; Pattison, Sharon S; Moravec, Jiri C JC; Bhat, Basharat B; Guirguis, Nada N; Markie, David D; Jones, Greg T GT; Copedo, Jason J; Print, Cristin G CG; Morison, Ian M IM; Gavryushkin, Alex A; Gray, Bronwyn B; Wyeth, Lisa J LJ; Eccles, Mike R MR; Macaulay, Erin C EC

Publication Date: 2022-04

Variant appearance in text: DNMT3A: 113G>T; Arg38Leu

PubMed Link: 35483879

Variant Present in the following documents:

• Main text
• MCS006182Pow.pdf

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: DNMT3A: R38L

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page