Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53.

Human mutation - 1 Mar 2020

Fortuno Cristina, Pesaran Tina, Dolinsky Jill, Yussuf Amal, McGoldrick Kelly, Goldgar David, James Paul A, Spurdle Amanda B

Abstract excerpt

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 to improve their utility in the clinical setting. As part of these specifications, phenotype-related criteria can be detailed and weighted...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Clinical Decision-Making
Share to Disease Management

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Neoplasms

Share to Odds Ratio

Share to Practice Guidelines as Topic

Share to Tumor Suppressor Protein p53

Share to United States

Source

Identifiers

PMID: 31898864
DOI: 10.1002/humu.23972

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Differences in patient ascertainment affect the use of gene-specified ACMG/AMP phenotype-related variant classification criteria: Evidence for TP53.PMID 31898864Read ↗

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.Semantic proximity Read ↗

Differences in TP53 Mutation Carrier Phenotypes Emerge From Panel-Based Testing.Semantic proximity Read ↗

Specifications of the ACMG/AMP variant interpretation guidelines for germline <i>TP53</i> variantsSemantic proximity Read ↗

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53Semantic proximity Read ↗

An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategy.Semantic proximity Read ↗

Performance of LFSPRO <i>TP53</i> germline carrier risk predictions compared to standard genetic counseling practice on prospectively collected probandsSemantic proximity Read ↗

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysisSemantic proximity Read ↗

Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene <i>TP53</i>Semantic proximity Read ↗

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.Semantic proximity Read ↗

Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.Semantic proximity Read ↗

Performance of LFSPRO prediction in TP53 mutation status for prospectively collected probands.Semantic proximity Read ↗

Genotypic and phenotypic characteristics of germline TP53 variant carriers: experience from two cancer genetic counseling units.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.