ClinGen Dosage Sensitivity Curation Page

See New Dosage Map New! The ClinGen Dosage Sensitivity curations and downloads that are available at this site are now also available at www.clinicalgenome.org. Click on the button to access Dosage Sensitivity in the context of ClinGen's other curated information, including Gene-Disease Validity and Clinical Actionability.

BRCA2

  • 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