ClinGen Dosage Sensitivity Curation Page

3 copies: 15q telomere

  • Curation Status: Complete
  • id: ISCA-37480
  • Date last evaluated: 2013-11-26
  • Issue Type: ClinGen Region Curation
  • ClinGen Haploinsufficiency Score: 0
  • ClinGen Triplosensitivity Score: Triplosensitivity unlikely

Location Information

  • 15q26.3
  • GRCh37/hg19 chr15: 102,161,480-102,521,392
  • View: NCBI | Ensembl | UCSC
  • GRCh38/hg38 chr15: 101,621,277-101,981,189
  • View: NCBI | Ensembl | UCSC
Select assembly: (NC_000015.9) ()
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

Please note: Most cases in the literature describing 15q telomeric deletions actually encompass a larger area, often involving 15q26.2, than the area being evaluated here. This genomic region contains five coding genes (TM2D3, TARSL2, OR4F6, OR4F15, OR4F4) and several non-coding genes. Davidsson et al 2008 (PMID 18194513) proposed a possible role for TM2D3 haploinsufficiency in patients with larger15q26 microdeletions, although this was based solely on information about the proposed function of TM2D3 (regulatory roles in cell death or proliferation signal cascades). At this time, there has been no evidence supporting the association of a specific phenotype to the haploinsufficiency of this particular region of 15q26.3.

  • Triplosensitivity score: Triplosensitivity unlikely
  • Strength of Evidence (disclaimer): Triplosensitivity unlikely

Triplosensitivity phenotype comment:

There are no reports in the literature associating duplications of this genomic region with any phenotype; however, there are several entries of duplications involving part of this genomic region in the public CNV databases of (presumably) 'normal' controls.