IsNewlyHeterozygousNonRef

A proband variant is heterozygous non-ref if it is heterozygous and neither allele is the reference allele. The variant is newly heterozygous non-ref if the genotypes of both parents contain the reference allele.

A proband variant is assigned the category IsNewlyHeterozygousNonRef if all of the following are true:

  • The variant is heterozygous.

  • Neither of the variant's alleles is the same as the reference.

  • The father's genotype contains the reference allele at this variant position.

  • The mother's genotype contains the reference allele at this variant position.

  • The variant's functional annotations include at least one specified by newly_homozygous_nonref_functional_types.

  • The frequency in the population of at least one of its alleles is at most newly_homozygous_nonref_max_population_allele_frequency.

This situation can indicate a recessive trait or condition, in which the parents carry the same deleterious mutations but are unaffected because they are heterozygous-ref.

Note: The parameters newly_homozygous_nonref_functional_types and newly_homozygous_nonref_max_population_allele_frequency are used in both the IsNewlyHomozygousNonRef and IsNewlyHeterozygousNonRef categories.