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Article

Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2022

Loong Lucy, Cubuk Cankut, Choi Subin, Allen Sophie, Torr Beth, Garrett Alice, Loveday Chey, Durkie Miranda, Callaway Alison, Burghel George J, Drummond James, Robinson Rachel, Berry Ian R, Wallace Andrew, Eccles Diana M, Tischkowitz Marc, Ellard Sian, Ware James S, Hanson Helen, Turnbull Clare

Abstract excerpt

PURPOSE: Conditions and thresholds applied for evidence weighting of within-codon concordance (PM5) for pathogenicity vary widely between laboratories and expert groups. Because of the sparseness of available clinical classifications, there is little evidence for variation in practice. METHODS: We used as a truthset 7541 dichotomous functional classifications of BRCA1 and MSH2, spanning 311 codons of BRCA1 and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34906453
DOI: 10.1016/j.gim.2021.11.011
PMCID: PMC8896276

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