ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000013.10) (NC_000013.11)

Haploinsufficiency phenotype comments:

Many loss of function mutations have been described; see OMIM gene entry for details. Heterozygous mutations of BRCA2 cause susceptibility to breast and ovarian cancer (see OMIM), a phenotype that is not appropriate for our purposes. Homozygous mutations of BRCA2 cause Fanconi anemia (see GeneReviews), which is an appropriate phenotype but is an inappropriate mutational mechanism.

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity