Enum: VariantOriginEnum

The origin of variation in a gene with respect to a disease entry. Bound to GENO allele origin terms.

Permissible Values

Value	Meaning	Description
GERMLINE	GENO:0000888	germline allele origin
SOMATIC	GENO:0000882	somatic allele origin
DE_NOVO	GENO:0000880	de novo allele origin
GERMLINE_AND_SOMATIC	None	The gene is implicated by both germline and somatic variants in the disease (...
UNKNOWN	GENO:0000881	unknown allele origin

Slots

Name	Description
variant_origin	The origin of disease-associated variation in this gene (germline, somatic, d...

Identifier and Mapping Information

Schema Source

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

LinkML Source

name: VariantOriginEnum
description: The origin of variation in a gene with respect to a disease entry. Bound
  to GENO allele origin terms.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
permissible_values:
  GERMLINE:
    text: GERMLINE
    description: germline allele origin
    meaning: GENO:0000888
    title: Germline
    notes:
    - Variant present in the germline (inherited or constitutional).
  SOMATIC:
    text: SOMATIC
    description: somatic allele origin
    meaning: GENO:0000882
    title: Somatic
    notes:
    - Variant acquired in somatic tissue after fertilization.
  DE_NOVO:
    text: DE_NOVO
    description: de novo allele origin
    meaning: GENO:0000880
    title: De novo
    notes:
    - Variant arising as a new mutation in the proband, not present in parents.
  GERMLINE_AND_SOMATIC:
    text: GERMLINE_AND_SOMATIC
    description: The gene is implicated by both germline and somatic variants in the
      disease (e.g., tumor suppressors with two-hit mechanisms).
    title: Germline and somatic
  UNKNOWN:
    text: UNKNOWN
    description: unknown allele origin
    meaning: GENO:0000881
    title: Unknown
    notes:
    - Origin of the variant is unspecified or not determined.