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On this page
  • Constraint Metrics (gnomAD)
  • Haploinsufficiency and Triplosensitivity (ClinGen)
  • Evidence Classification
  • SpliceAI
  • PrimateAI-3D

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  1. Interpret and report
  2. Variants Tab
  3. Apply Variant Filters

Functional Impact Filters

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Last updated 17 hours ago

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This page summarizes filters related to the functional impact of a variant. Filter availability can vary depending on the selected variant categories. If filters are applied to more than one variant category in the same condition group, only filters relevant for all variant categories are available. For more information,refer to .

Constraint Metrics (gnomAD)

Filters by gnomAD constraint metrics: LOEUF, misZ, pLI, misZ, pLI, pNull, pRec, and synZ. For more information, refer to .

Haploinsufficiency and Triplosensitivity (ClinGen)

Filters by the haploinsufficiency and triplosensitivity evidence classification. It represents the strength of evidence supporting a relationship between a gene and disease and whether loss (haploinsufficiency) or gain (triplosensitivity) of individual genes or genomic regions is a mechanism for disease(Riggs et al., Clin Genet. 81, 403–412 (2012)).

The evidence categories can be used for clinical interpretation of copy number variants using the categories recommended by ClinGen.

Evidence Classification

Evidence Classification

Haploinsufficiency and TriplosensitivityScore

Suggested Classification

Sufficient Evidence

3

Pathogenic

Emerging Evidence

2

Likely Pathogenic

Little Evidence

1

VUS

No Evidence

0

VUS

Sensitivity Unlikely

40: Dosage Sensitivity Unlikely

Likely Benign/Benign

Autosomal Recessive Phenotype

30: Autosomal Recessive

Not applicable

SpliceAI

PrimateAI-3D

Filters by the SpliceAI score. For more information, refer to .

Filters by the PrimateAI-3D score. For more information, refer to .

Filter by Variant Category
Acronyms and Terms
Acronyms and Terms
Acronyms and Terms