Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion (Q57250537)

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21 April 2020

title

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion (English)

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1

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Andrea Oza

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Heidi L. Rehm

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Steven M Harrison

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Marina T DiStefano

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2

Tina Pesaran

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author name string

Leslie G Biesecker

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ClinGen Sequence Variant Interpretation Working Group (ClinGen SVI)

8

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publication date

7 September 2018

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21 April 2020

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volume

39

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issue

11

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page(s)

1517-1524

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Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium

21 April 2020

cites work

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Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

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Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.

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Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel

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Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans

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Discovery of noncanonical translation initiation sites through mass spectrometric analysis of protein N termini

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Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints

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Reference sequence (RefSeq) database at NCBI: current status, taxonomic expansion, and functional annotation

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7 January 2021

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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7 January 2021

Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome

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Leucine-tRNA initiates at CUG start codons for protein synthesis and presentation by MHC class I

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7 January 2021

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource

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7 January 2021

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.

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7 January 2021

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New universal rules of eukaryotic translation initiation fidelity

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7 January 2021

Identifiers

DOI

10.1002/HUMU.23626

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21 April 2020

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21 April 2020

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