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13q21.33 population region (DGV_Gold_Standard_June_2021_gssvL31119) |
- 40
Haplo
Score - 0
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-46671
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
GESV=gssvL31119
GENES=RPS10P21
VARIANT TYPE=Loss
AF=47.43%
ORIGIN=DGV gold dataset (June 11, 2021)
NUMBER OF UNIQUE SAMPLES=1185
STUDIES=Arlt2010,Altshuler2010
PLATFORMS=IlluminaOmni1-Quad,Affymetrix6.0_Illumina1M
Breakpoint Type:
Variable
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
gnomAD Allele Frequency:
47.43%
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_000013.10)
(NC_000013.11)
