 |
19q13.42 population region (DGV_Gold_Standard_June_2021_gssvG19479) |
- 0
Haplo
Score - 40
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-46717
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
GESV=gssvG19479
GENES=RFPL4AL1
VARIANT TYPE=Gain
AF=10.58%
ORIGIN=DGV gold dataset (June 11, 2021)
NUMBER OF UNIQUE SAMPLES=4671
STUDIES=Cooper2011,Vogler2010,Campbell2011
PLATFORMS=Custom_Illumina_1.2M,Affymetrix6.0,AgilentCustom180K_v2.1+v3.0
Breakpoint Type:
Variable
Haploinsufficiency:
No Evidence for Haploinsufficiency
(0)
Triplosensitivity:
Dosage Sensitivity Unlikely
(40)
gnomAD Allele Frequency:
10.58%
Last Evaluated:
08/04/2021
Haploinsufficiency (HI) Score Details
HI Score:
0
HI Evidence Strength:
No Evidence for Haploinsufficiency
(Disclaimer)
Triplosensitivity (TS) Score Details
TS Score:
40
TS Evidence Strength:
Dosage Sensitivity Unlikely (Disclaimer)
TS 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”.
Genomic View
Select assembly:
(NC_000019.9)
(NC_000019.10)
