Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion
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DOI: 10.1002/humu.23626
Abstract: The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence criteria, including a pathogenic criterion (PVS1) for predicted loss of function variants. However, the guideline… read more here.
Keywords: loss function; acmg amp; criterion; loss ... See more keywords
Updated recommendation for the benign stand‐alone ACMG/AMP criterion
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DOI: 10.1002/humu.23642
Abstract: The Clinical Genome Resource (ClinGen) Sequence Variant Interpretation Working Group set out to refine the American College of Medical Genetics and Genomics and the Association of Molecular Pathologists (ACMG/AMP) variant pathogenicity recommendations for stand‐alone rule… read more here.
Keywords: recommendation benign; stand alone; acmg amp; updated recommendation ... See more keywords
Differences in patient ascertainment affect the use of gene‐specified ACMG/AMP phenotype‐related variant classification criteria: Evidence for TP53
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DOI: 10.1002/humu.23972
Abstract: The American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines for variant classification are widely used for clinical interpretation of gene test results. These guidelines may be specified to genes/syndromes of interest… read more here.
Keywords: phenotype related; variant classification; acmg amp; gene ... See more keywords
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelines
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DOI: 10.1002/humu.24060
Abstract: Early onset breast cancer is the most common malignancy in women with Li‐Fraumeni syndrome, caused by germline TP53 pathogenic variants. It has repeatedly been suggested that breast tumors from TP53 carriers are more likely to… read more here.
Keywords: her2 breast; breast; breast tumor; pathology ... See more keywords
Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach
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DOI: 10.1002/humu.24449
Abstract: Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near… read more here.
Keywords: acmg amp; analysis; points based; approach ... See more keywords
Multiple endocrine neoplasia type 2 (MEN2) and RET specific modifications of the ACMG/AMP variant classification guidelines and impact on the MEN2 RET database
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DOI: 10.1002/humu.24486
Abstract: The Multiple Endocrine Neoplasia type 2 (MEN2) RET proto‐oncogene database, originally published in 2008, is a comprehensive repository of all publicly available RET gene variations associated with MEN2 syndromes. The variant‐specific genotype/phenotype information, age of… read more here.
Keywords: men2 ret; classification; database; acmg amp ... See more keywords
The pathogenicity classification of PAH gene variants in the Iranian population.
Sign Up to like & getrecommendations! Published in 2022 at "Computational biology and chemistry"
DOI: 10.1016/j.compbiolchem.2022.107665
Abstract: Till now not many studies have been conducted to classify PAH gene variants according to American College of Medical Genetics and Genomics (ACMG-AMP) guidelines. The aim of this study was to collect all PAH gene… read more here.
Keywords: iranian population; acmg amp; amp guidelines; pah gene ... See more keywords
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
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DOI: 10.1093/hmg/ddae009
Abstract: Since first publication of the American College of Medical Genetics and Genomics/Association for Medical Pathology (ACMG/AMP) variant classification guidelines, additional recommendations for application of certain criteria have been released (https://clinicalgenome.org/docs/), to improve their application in… read more here.
Keywords: acmg amp; variant classification; proband counting;
Reclassification of VUS Using ACMG/AMP Criteria Adapted for Sarcomeric Genes Related to Hypertrophic Cardiomyopathy: Resolution Rate and Considerations
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DOI: 10.1155/humu/6500093
Abstract: Background Genetic testing is valuable to confirm molecular diagnosis in nearly 60% of cases suspected of hypertrophic cardiomyopathy (HCM). However, the interpretation of variants, especially those of uncertain significance (VUSs), remains challenging for laboratories and… read more here.
Keywords: rate; acmg amp; reclassification; amp criteria ... See more keywords
Classification of BRCA2 Variants of Uncertain Significance (VUS) Using an ACMG/AMP Model Incorporating a Homology-Directed Repair (HDR) Functional Assay
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DOI: 10.1158/1078-0432.ccr-22-0203
Abstract: Abstract Purpose: The identification of variants of uncertain significance (VUS) in the BRCA1 and BRCA2 genes by hereditary cancer testing poses great challenges for the clinical management of variant carriers. The ACMG/AMP (American College of… read more here.
Keywords: vus; classification; brca2; acmg amp ... See more keywords
Refinement of the assignment to the ACMG/AMP BS3 and PS3 criteria of eight BRCA1 variants of uncertain significance by integrating available functional data with protein interaction assays
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Oncology"
DOI: 10.3389/fonc.2023.1146604
Abstract: The clinical screening of cancer predisposition genes has led to the identification of a large number of variants of uncertain significance (VUS). Multifactorial likelihood models that predict the odds ratio for VUS in favor or… read more here.
Keywords: ps3; acmg amp; significance; bs3 ... See more keywords