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16p13.11 population region (gnomAD-SV_v2.1_DEL_16_152730) |
- 40
Haplo
Score - 0
Triplo
Score
Dosage Sensitivity Summary (Region)
Dosage ID:
ISCA-46487
Curation Status:
Complete
Issue Type:
Dosage Curation -
Region
Description:
SVTYPE=DEL
GENES=NOMO3
COPY_GAIN=NA
GNOMAD AF=0.171937004
ORIGIN=gnomad_v2.1_sv.sites (May 1, 2021)
GNOMAD URL=https://gnomad.broadinstitute.org/variant/DEL_16_152730?dataset=gnomad_sv_r2_1
Breakpoint Type:
Variable
Haploinsufficiency:
Dosage Sensitivity Unlikely
(40)
Triplosensitivity:
No Evidence for Triplosensitivity
(0)
gnomAD Allele Frequency:
0.171937004
Last Evaluated:
08/23/2021
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.”
This is a small intragenic deletion within the NOMO3 gene, which is included within the larger, pathogenic, 16p13.11 recurrent region. For more information about the pathogenic recurrent region, please see "16p13.11 recurrent region (BP2-BP3) (includes MYH11)."
Triplosensitivity (TS) Score Details
TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)
Genomic View
Select assembly:
(NC_000016.9)
(NC_000016.10)
