12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23228)

  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Region Facts

Region Name
12p13.2 population region (DGV_Gold_Standard_June_2021_gssvL23228)
Cytoband
12p13.2
Genomic Coordinates
GRCh37/hg19 chr12:11227081-11251139 NCBI Ensembl UCSC
GRCh38/hg38 chr12:11074482-11098540 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-46662
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
GESV=gssvL23228 GENES=TAS2R43, TAS2R64P VARIANT TYPE=Loss AF=22.09% ORIGIN=DGV gold dataset (June 11, 2021) NUMBER OF UNIQUE SAMPLES=4047 STUDIES=Uddin2014,Cooper2011,1000GenomesPhase1,Altshuler2010 PLATFORMS=CytoScanHD_2.7M,Illumina_II_IIX_HiSeq,Custom_Illumina_1.2M,Affymetrix6.0_Illumina1M
Breakpoint Type:
Variable
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
gnomAD Allele Frequency:
22.09%
Last Evaluated:
08/04/2021

Haploinsufficiency (HI) Score Details

HI Score:
40
HI Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
HI Evidence Comments:
As part of an effort to identify genomic regions that are unlikely to be dosage sensitive, ClinGen queried the Database of Genomic Variants (DGV) gold standard GRCh37 data set (PMID: 24174537) (downloaded June 2021) for variants meeting the following criteria: passed DGV quality filters, characterized as either a deletion or duplication, >1 kb 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 those criteria in DGV gold standard GRCh37; the DGV gold standard GRCh37 identifier for this variant is reflected in the title for reference. As of July 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”.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)