Enum: AllelicEventEnum

Type of genetic or epigenetic event affecting an allele. Use together with variant_origin, allelic_hit_role, zygosity, and functional impact rather than creating cross-product terms.

URI: dismech:enum/AllelicEventEnum

Permissible Values

Value	Meaning	Description	Additional Info
PATHOGENIC_VARIANT	None	Pathogenic sequence variant or small variant not otherwise specified	Title: Pathogenic variant
MISSENSE_VARIANT	None	Sequence variant that changes an amino acid	Title: Missense variant
NONSENSE_VARIANT	None	Sequence variant that introduces a premature termination codon	Title: Nonsense variant
FRAMESHIFT_VARIANT	None	Insertion or deletion that changes the coding reading frame	Title: Frameshift variant
SPLICE_SITE_VARIANT	None	Variant that disrupts or alters RNA splicing	Title: Splice site variant
DELETION	None	Sequence or chromosomal deletion event	Title: Deletion
COPY_NUMBER_LOSS	None	Loss of DNA copy number affecting the gene or locus	Title: Copy-number loss
COPY_NUMBER_GAIN	None	Gain of DNA copy number affecting the gene or locus	Title: Copy-number gain
LOSS_OF_HETEROZYGOSITY	None	Loss of the wild-type or alternate allele in a tissue or clone	Title: Loss of heterozygosity
PROMOTER_METHYLATION	None	Epigenetic promoter methylation affecting gene expression	Title: Promoter methylation
BIALLELIC_INACTIVATION	None	Composite event state in which both alleles are functionally inactivated	Title: Biallelic inactivation
UNKNOWN	None	The allelic event type has not been determined	Title: Unknown

Slots

Name	Description
allelic_events	Event types affecting the allele or locus

Identifier and Mapping Information

Schema Source

• from schema: https://w3id.org/monarch-initiative/dismech

LinkML Source

name: AllelicEventEnum
description: Type of genetic or epigenetic event affecting an allele. Use together
  with variant_origin, allelic_hit_role, zygosity, and functional impact rather than
  creating cross-product terms.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  PATHOGENIC_VARIANT:
    text: PATHOGENIC_VARIANT
    description: Pathogenic sequence variant or small variant not otherwise specified.
    title: Pathogenic variant
  MISSENSE_VARIANT:
    text: MISSENSE_VARIANT
    description: Sequence variant that changes an amino acid.
    title: Missense variant
  NONSENSE_VARIANT:
    text: NONSENSE_VARIANT
    description: Sequence variant that introduces a premature termination codon.
    title: Nonsense variant
  FRAMESHIFT_VARIANT:
    text: FRAMESHIFT_VARIANT
    description: Insertion or deletion that changes the coding reading frame.
    title: Frameshift variant
  SPLICE_SITE_VARIANT:
    text: SPLICE_SITE_VARIANT
    description: Variant that disrupts or alters RNA splicing.
    title: Splice site variant
  DELETION:
    text: DELETION
    description: Sequence or chromosomal deletion event.
    title: Deletion
  COPY_NUMBER_LOSS:
    text: COPY_NUMBER_LOSS
    description: Loss of DNA copy number affecting the gene or locus.
    title: Copy-number loss
  COPY_NUMBER_GAIN:
    text: COPY_NUMBER_GAIN
    description: Gain of DNA copy number affecting the gene or locus.
    title: Copy-number gain
  LOSS_OF_HETEROZYGOSITY:
    text: LOSS_OF_HETEROZYGOSITY
    description: Loss of the wild-type or alternate allele in a tissue or clone.
    title: Loss of heterozygosity
  PROMOTER_METHYLATION:
    text: PROMOTER_METHYLATION
    description: Epigenetic promoter methylation affecting gene expression.
    title: Promoter methylation
  BIALLELIC_INACTIVATION:
    text: BIALLELIC_INACTIVATION
    description: Composite event state in which both alleles are functionally inactivated.
    title: Biallelic inactivation
  UNKNOWN:
    text: UNKNOWN
    description: The allelic event type has not been determined.
    title: Unknown