2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22135)

  • 40
    Haplo
    Score
  • 0
    Triplo
    Score

Region Facts

Region Name
2q21.1 population region (gnomAD-SV_v2.1_DEL_2_22135)
Cytoband
2q21.1
Genomic Coordinates
GRCh37/hg19 chr2:130954938-130957387 NCBI Ensembl UCSC
GRCh38/hg38 chr2:130197365-130199814 NCBI Ensembl UCSC

Dosage Sensitivity Summary (Region)

Dosage ID:
ISCA-46344
Curation Status:
Complete
Issue Type:
Dosage Curation - Region
Description:
SVTYPE=DEL GENES=TUBA3E COPY_GAIN=NA GNOMAD AF=0.340108991 ORIGIN=gnomad_v2.1_sv.sites (May 1, 2021) GNOMAD URL=https://gnomad.broadinstitute.org/variant/DEL_2_22135?dataset=gnomad_sv_r2_1
Breakpoint Type:
Variable
Haploinsufficiency:
Dosage Sensitivity Unlikely (40)
Triplosensitivity:
No Evidence for Triplosensitivity (0)
gnomAD Allele Frequency:
0.340108991
Last Evaluated:
08/06/2021

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 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.”

Triplosensitivity (TS) Score Details

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

Genomic View

Select assembly: (NC_000002.11) (NC_000002.12)