parentvariant

Parentvariant is a term used in genetics and bioinformatics to denote a genetic variant that is inherited from one or both parents, as opposed to a de novo mutation that first appears in an individual.

In family-based sequencing analyses, parentvariants are identified by comparing the child’s genome to the parental genomes. If a variant is present in one or both parents and also observed in the child, it is typically described as inherited or parent-derived; some pipelines also distinguish the parental origin (paternal or maternal). The exact labeling can vary across analysis tools and study designs.

In data representations such as VCF files, inheritance information may be captured through annotations, phasing, or trio-based analyses. Phasing information helps determine which parent contributed a given allele, enabling classification into parentvariants versus de novo variants. Accurate identification of parentvariants relies on high-quality sequencing data and careful consideration of potential complexities such as mosaicism or incomplete parental data.

Applications of the concept include studying Mendelian inheritance patterns, estimating recurrence risk in families, and understanding the genetic architecture of diseases. Parentvariants provide contrast to de novo variants, which are variants not present in either parent and can be implicated in sporadic or early-onset conditions.

Beyond biology, the term parentvariant may appear in software or product management contexts to denote a variant derived from a parent release; however, this usage is nonstandard and not widely adopted in established terminology.

See also: de novo variant, transmitted variant, inheritance, trio analysis.