ClinGen Dosage Sensitivity Curation Page

BPY2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000024.9) (NC_000024.10)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

BPY2 (VCY2) is located within the AZFc region, a region that is associated with abnormal spermatogenesis when deleted (PMIDs: 16491273, 18043844). However, focal deletions of BPY2 alone have not been reported. A paper by Lin et al. (2002, PMID: 12009341) reports 180 men with abnormal spermatogenesis who had deletions in one of the three AZF regions and none of these men had a focal deletion of BPY2 alone. This phenotype would not be an appropriate indication for chromosome microarray.

The ratings for loss-of-function and triplosensitivity for genes on the Y chromosome are made in the same fashion as for genes linked to autosomal dominant disorders.

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

The ratings for loss-of-function and triplosensitivity for genes on the Y chromosome are made in the same fashion as for genes linked to autosomal dominant disorders.