5q13.2 population region (gnomAD-SV_v2.1_DUP_5_15442)
  • 0
    Haplo
    Score
  • 40
    Triplo
    Score

Region Facts

Region Name
5q13.2 population region (gnomAD-SV_v2.1_DUP_5_15442)
Cytoband
5q13.2
Genomic Coordinates
GRCh37/hg19 chr5:70324499-70404000 NCBI Ensembl UCSC
GRCh38/hg38 chr5:71028672-71108173 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-46360
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
SVTYPE=DUP GENES=NA COPY_GAIN=GTF2H2 GNOMAD AF=0.062056001 ORIGIN=gnomad_v2.1_sv.sites (May 1, 2021) GNOMAD URL=https://gnomad.broadinstitute.org/variant/DUP_5_15442?dataset=gnomad_sv_r2_1
Breakpoint Type:
Variable
Haploinsufficiency:
No Evidence for Haploinsufficiency (0)
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Triplosensitivity:
Dosage Sensitivity Unlikely (40)
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gnomAD Allele Frequency:
0.062056001
Last Evaluated:
08/12/2021

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 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.”

Genomic View

Select assembly: (NC_000005.9) (NC_000005.10)