Variant Details

Variants are grouped into the following higher-order curation tabs:

Nucleotide—Specific alterations frequently observed in the disease condition or mentioned in the evidence.
Amino Acid—Biomarker content at the protein-level.
Codon—Content from public sources on cohort analysis, grouped at a specific protein location.
Exon—Content that matches functional protein alterations.
Gene—A gene combined with a mutation class.

The following table details the additional variant association data provided in the Variant Details View. The data vary depending on the variant association type and the data provided in the knowledge base.

Variant Detail

Description

Association Type

The relationship type between the variant and condition.

Genome Build

The reference genome assembly used for association.

Phenotype

The phenotype for the association.

Pathogenicity

The predicted pathogenicity of the disease.

Penetrance

The frequency of the disease among the population with the variant.

Submitted By

The name of the curation submitter.

Last Updated

The date the association was last modified.

Status

The status of the curation.

Enabled—The curation is approved. If * appears next to the status, the enabled curation has pending changes.

In Progress—The curation has been submitted and is pending approval.

Disabled—The curation has been disabled.

Inheritance Mode

The inheritance pattern of the disease.

Direction

The direction of the associated response.

Validation Level

The criteria used to validate the association. Possible entries, listed in descending order of significance, are:

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Companion Test—An FDA or EU approved test, specifying a drug and disease combination, is available for the associated biomarker.

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Clinical Studies—Either of the following:

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A cohort analysis is used to determine the role of the biomarker in predicting the response to drug treatment.

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A case series provides patient information that identifies genetic biomarkers that confer drug responsiveness within a treatment group.

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Case Reports—Published results for an individual patient that indicate a potential biomarker association with a treatment outcome.

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Experimental—Studies that examine the functional or drug sensitivity of genetic alterations within the contexts of in vitro or in vivo models.

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Pathway Based—Studies that provide gain/loss of function analysis for variant using an in vitro model.

Confidence

The confidence level of the association.

Drugs Tested

The name of the drugs associated with the response.

RCV ID

Reference ClinVar ID, linked to the associated page of the ClinVar database.

Curation Level

The higher-order curation level.

Mutation Class

A grouping of consequences. Multiple mutation classes can be used to refine associations.

BaseSpace Annotation Engine

The version of BaseSpace Annotation Engine used for the variant annotation.

SCV ID

Submission ClinVar ID, linked to the associated page of the ClinVar database.

Summary

A brief overview of the information.

Related articles

Variant Details