GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 12, 2011
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000053072.4

Allele description [Variation Report for GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3]

GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3

Genes:

LOC130066636:ATAC-STARR-seq lymphoblastoid active region 18441 [Gene]
LOC130066642:ATAC-STARR-seq lymphoblastoid active region 18442 [Gene]
LOC130066645:ATAC-STARR-seq lymphoblastoid active region 18443 [Gene]
LOC130066646:ATAC-STARR-seq lymphoblastoid active region 18444 [Gene]
LOC130066647:ATAC-STARR-seq lymphoblastoid active region 18445 [Gene]
LOC130066648:ATAC-STARR-seq lymphoblastoid active region 18446 [Gene]
LOC130066649:ATAC-STARR-seq lymphoblastoid active region 18447 [Gene]
LOC130066651:ATAC-STARR-seq lymphoblastoid active region 18449 [Gene]
LOC130066635:ATAC-STARR-seq lymphoblastoid silent region 13289 [Gene]
LOC130066637:ATAC-STARR-seq lymphoblastoid silent region 13291 [Gene]
LOC130066638:ATAC-STARR-seq lymphoblastoid silent region 13292 [Gene]
LOC130066639:ATAC-STARR-seq lymphoblastoid silent region 13293 [Gene]
LOC130066640:ATAC-STARR-seq lymphoblastoid silent region 13294 [Gene]
LOC130066641:ATAC-STARR-seq lymphoblastoid silent region 13295 [Gene]
LOC130066643:ATAC-STARR-seq lymphoblastoid silent region 13296 [Gene]
LOC130066644:ATAC-STARR-seq lymphoblastoid silent region 13298 [Gene]
LOC130066650:ATAC-STARR-seq lymphoblastoid silent region 13299 [Gene]
LOC130066652:ATAC-STARR-seq lymphoblastoid silent region 13300 [Gene]
LOC130066653:ATAC-STARR-seq lymphoblastoid silent region 13302 [Gene]
LOC125418073:CDK7 strongly-dependent group 2 enhancer GRCh37_chr21:38567734-38568933 [Gene]
DSCR9:Down syndrome critical region 9 [Gene - HGNC]
LOC111556145:GFI1 motif-containing MPRA enhancer 103 [Gene]
HLCS-AS1:HLCS antisense RNA 1 [Gene - HGNC]
LOC108281168:HLCS intron CAGE-defined mid-level expression enhancer [Gene]
LOC126653362:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr21:38281839-38283038 [Gene]
SIM2:SIM bHLH transcription factor 2 [Gene - OMIM - HGNC]
LOC125418072:Sharpr-MPRA regulatory region 2954 [Gene]
LOC121627922:Sharpr-MPRA regulatory region 5899 [Gene]
LOC121853029:Sharpr-MPRA regulatory region 9348 [Gene]
TTC3-AS1:TTC3 antisense RNA 1 [Gene - HGNC]
VPS26C:VPS26 endosomal protein sorting factor C [Gene - OMIM - HGNC]
DYRK1A:dual specificity tyrosine phosphorylation regulated kinase 1A [Gene - OMIM - HGNC]
HLCS:holocarboxylase synthetase [Gene - OMIM - HGNC]
PIGP:phosphatidylinositol glycan anchor biosynthesis class P [Gene - OMIM - HGNC]
RIPPLY3:ripply transcriptional repressor 3 [Gene - OMIM - HGNC]
TTC3:tetratricopeptide repeat domain 3 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

21q22.13

Genomic location:

Preferred name:

GRCh38/hg38 21q22.13(chr21:36712503-37408829)x3

HGVS:

NC_000021.9:g.(?_36712503)_(37408829_?)dup
NC_000021.7:g.(?_37006673)_(37703001_?)dup
NC_000021.8:g.(?_38084803)_(38781131_?)dup

Links:

dbVar: nssv578908; dbVar: nsv531762

Observations:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000080427	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (Aug 12, 2011)	not provided	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000080427

GeneDx

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Pathogenic
(Aug 12, 2011)

not provided

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]

PMID:: 21844811
PMCID:: PMC3661946

Details of each submission

From GeneDx, SCV000080427.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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