ClinGen Dosage Sensitivity Curation Page

12p13.31 population region (gnomAD-SV_v2.1_DUP_12_33971)

  • Curation Status: Complete
  • id: ISCA-46461
  • Date last evaluated: 2021-08-09
  • Issue Type: ClinGen Region Curation
  • ClinGen Haploinsufficiency Score: 0
  • ClinGen Triplosensitivity Score: Triplosensitivity unlikely


Location Information

  • 12p13.31
  • GRCh37/hg19 chr12: 8,361,449-8,390,896
  • View: NCBI | Ensembl | UCSC

GRCh37/hg19 chr12: 8,361,449-8,390,896 ()

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

Triplosensitivity phenotype comment:

As part of an effort to identify genomic regions that are unlikely to be dosage sensitive, ClinGen queried the gnomAD structural variant (SV) v2.1 data set (PMID: 32461652) for variants meeting the following criteria: passed gnomAD quality filters, characterized as either a deletion or duplication, >1kb in size, includes at least one gene, and present at an allele frequency of >5% (with at least 2000 alleles tested). This region corresponds to a variant identified as meeting these criteria in gnomAD-SV v2.1; the gnomAD identifier for this variant is reflected in the title for reference. As of May 1st, 2021, there has been no reported relationship between the gene(s) included in this region and human disease. Given the high population frequency, this region has been classified as ?dosage sensitivity unlikely.?