Enum: ACMGPathogenicityEnum

ACMG/AMP variant pathogenicity classification for clinical genetics

Permissible Values

Value	Meaning	Description
PATHOGENIC	NCIT:C168799	Pathogenic variant
LIKELY_PATHOGENIC	NCIT:C168800	Likely pathogenic variant
UNCERTAIN_SIGNIFICANCE	NCIT:C94187	Variant of uncertain significance
LIKELY_BENIGN	NCIT:C168801	Likely benign variant
BENIGN	NCIT:C168802	Benign variant

Slots

Name	Description
acmg_pathogenicity	ACMG/AMP variant pathogenicity classification for clinical genetics

Identifier and Mapping Information

Schema Source

from schema: https://w3id.org/linkml/valuesets

LinkML Source

name: ACMGPathogenicityEnum
description: ACMG/AMP variant pathogenicity classification for clinical genetics
from_schema: https://w3id.org/linkml/valuesets
rank: 1000
permissible_values:
  PATHOGENIC:
    text: PATHOGENIC
    description: Pathogenic variant
    meaning: NCIT:C168799
    annotations:
      abbreviation:
        tag: abbreviation
        value: P
      clinical_significance:
        tag: clinical_significance
        value: Disease-causing
    title: Pathogenic Variant
  LIKELY_PATHOGENIC:
    text: LIKELY_PATHOGENIC
    description: Likely pathogenic variant
    meaning: NCIT:C168800
    annotations:
      abbreviation:
        tag: abbreviation
        value: LP
      probability:
        tag: probability
        value: '>90% certain'
    title: Likely Pathogenic Variant
  UNCERTAIN_SIGNIFICANCE:
    text: UNCERTAIN_SIGNIFICANCE
    description: Variant of uncertain significance
    meaning: NCIT:C94187
    annotations:
      abbreviation:
        tag: abbreviation
        value: VUS
      note:
        tag: note
        value: Insufficient evidence
    title: Variant of Unknown Significance
  LIKELY_BENIGN:
    text: LIKELY_BENIGN
    description: Likely benign variant
    meaning: NCIT:C168801
    annotations:
      abbreviation:
        tag: abbreviation
        value: LB
      probability:
        tag: probability
        value: '>90% certain benign'
    title: Variant Likely Benign
  BENIGN:
    text: BENIGN
    description: Benign variant
    meaning: NCIT:C168802
    annotations:
      abbreviation:
        tag: abbreviation
        value: B
      clinical_significance:
        tag: clinical_significance
        value: Not disease-causing
    title: Variant Benign