Xq21.1 population region (DGV_Gold_Standard_June_2021_gssvL136501)
  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Region Facts

Region Name
Xq21.1 population region (DGV_Gold_Standard_June_2021_gssvL136501)
Cytoband
Xq21.1
Genomic Coordinates
GRCh37/hg19 chrX:76137628-76141022 NCBI Ensembl UCSC
GRCh38/hg38 chrX:76917203-76920597 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-46736
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
GESV=gssvL136501 GENES=MIR384 VARIANT TYPE=Loss AF=12.22% ORIGIN=DGV gold dataset (June 11, 2021) NUMBER OF UNIQUE SAMPLES=2087 STUDIES=McCarroll2008,Campbell2011 PLATFORMS=Affymetrix6.0,AgilentCustom180K_v2.1+v3.0
Breakpoint Type:
Variable
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
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Triplosensitivity:
No Evidence for Triplosensitivity (0)
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gnomAD Allele Frequency:
12.22%
Last Evaluated:
08/03/2021

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”.
NOTE:

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Triplosensitivity (TS) Score Details

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

The loss-of-function and triplosensitivity ratings for genes on the X chromosome are made in the context of a male genome to account for the effects of hemizygous duplications or nullizygous deletions. In contrast, disruption of some genes on the X chromosome causes male lethality and the ratings of dosage sensitivity instead take into account the phenotype in female individuals. Factors that may affect the severity of phenotypes associated with X-linked disorders include the presence of variable copies of the X chromosome (i.e. 47,XXY or 45,X) and skewed X-inactivation in females.

Genomic View

Select assembly: (NC_000023.10) (NC_000023.11)