de novo variant

{
  "id": "MLC-T-ONC-002311",
  "term": "de novo variant",
  "field": "Oncology and biomedicine",
  "definitions": [
    "A term used to describe a change in the DNA sequence of a gene that is seen for the first time in a person and has not appeared in previous generations. A de novo variant can explain how a person can have a genetic condition that did not occur in his or her parents. A de novo variant can occur in an egg or sperm cell of a parent, in the fertilized egg soon after the egg and sperm unite, or in another type of cell during embryo development. A person who has a de novo variant may pass the mutation to his or her child. Some de novo variants may lead to cancer or other diseases. Also called de novo mutation, new mutation, and new variant.",
    "A genetic alteration that is present for the first time in one family member as a result of a variant (or mutation) in a germ cell (egg or sperm) of one of the parents, or a variant that arises in the fertilized egg itself during early embryogenesis. Also called de novo mutation, new mutation, and new variant."
  ],
  "synonyms": [
    "de novo mutation",
    "new mutation",
    "new variant"
  ],
  "references": [
    "NCI Dictionary of Cancer Terms",
    "NCI Dictionary of Genetics Terms"
  ],
  "url": "https://mlchart.com/terminology/oncology/de-novo-variant/"
}