GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3 AND See cases

Germline classification:: Uncertain significance (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:: RCV000052830.5

Allele description [Variation Report for GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3]

GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3

Genes:

AGPAT3:1-acylglycerol-3-phosphate O-acyltransferase 3 [Gene - OMIM - HGNC]
LOC130066784:ATAC-STARR-seq lymphoblastoid active region 18546 [Gene]
LOC130066787:ATAC-STARR-seq lymphoblastoid active region 18547 [Gene]
LOC130066790:ATAC-STARR-seq lymphoblastoid active region 18548 [Gene]
LOC130066792:ATAC-STARR-seq lymphoblastoid active region 18549 [Gene]
LOC130066793:ATAC-STARR-seq lymphoblastoid active region 18550 [Gene]
LOC130066794:ATAC-STARR-seq lymphoblastoid active region 18551 [Gene]
LOC130066795:ATAC-STARR-seq lymphoblastoid active region 18552 [Gene]
LOC130066799:ATAC-STARR-seq lymphoblastoid active region 18553 [Gene]
LOC130066800:ATAC-STARR-seq lymphoblastoid active region 18554 [Gene]
LOC130066801:ATAC-STARR-seq lymphoblastoid active region 18555 [Gene]
LOC130066803:ATAC-STARR-seq lymphoblastoid active region 18558 [Gene]
LOC130066783:ATAC-STARR-seq lymphoblastoid silent region 13363 [Gene]
LOC130066785:ATAC-STARR-seq lymphoblastoid silent region 13364 [Gene]
LOC130066786:ATAC-STARR-seq lymphoblastoid silent region 13365 [Gene]
LOC130066788:ATAC-STARR-seq lymphoblastoid silent region 13368 [Gene]
LOC130066789:ATAC-STARR-seq lymphoblastoid silent region 13369 [Gene]
LOC130066791:ATAC-STARR-seq lymphoblastoid silent region 13370 [Gene]
LOC130066796:ATAC-STARR-seq lymphoblastoid silent region 13371 [Gene]
LOC130066797:ATAC-STARR-seq lymphoblastoid silent region 13372 [Gene]
LOC130066798:ATAC-STARR-seq lymphoblastoid silent region 13373 [Gene]
LOC130066802:ATAC-STARR-seq lymphoblastoid silent region 13374 [Gene]
LOC116309124:CRISPRi-validated cis-regulatory element chr21.1179 [Gene]
LOC108254685:PDXK-CSTB intergenic CAGE-defined low expression enhancer [Gene]
LOC108281139:RRP1B-PDXK intergenic CAGE-defined mid-level expression enhancer [Gene]
LOC121853032:Sharpr-MPRA regulatory region 2423 [Gene]
AATBC:apoptosis associated transcript in bladder cancer [Gene - HGNC]
LOC109029533:cystatin B upstream repeat instability region [Gene]
CSTB:cystatin B [Gene - OMIM - HGNC]
PDXK:pyridoxal kinase [Gene - OMIM - HGNC]
RRP1:ribosomal RNA processing 1 [Gene - OMIM - HGNC]
RRP1B:ribosomal RNA processing 1B [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

21q22.3

Genomic location:

Preferred name:

GRCh38/hg38 21q22.3(chr21:43675516-43976023)x3

HGVS:

NC_000021.9:g.(?_43675516)_(43976023_?)dup
NC_000021.7:g.(?_43919825)_(44220332_?)dup
NC_000021.8:g.(?_45095397)_(45395904_?)dup

Links:

dbVar: nssv581062; dbVar: nsv531545

Observations:

Condition(s)

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

Recent activity

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Arabidopsis thaliana RNA polymerase I specific transcription initiation factor R...
Arabidopsis thaliana RNA polymerase I specific transcription initiation factor RRN3 protein (AT2G39240), partial mRNA
gi|1063702740|ref|NM_129482.3|

Nucleotide
Arabidopsis thaliana stress up-regulated Nod 19 protein (AT5G61820), mRNA
Arabidopsis thaliana stress up-regulated Nod 19 protein (AT5G61820), mRNA
gi|1063742662|ref|NM_001345498.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000080184	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Uncertain significance (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

SCV000080184

GeneDx

criteria provided, single submitter

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

Uncertain significance
(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, SCV000080184.5

#	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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Relating variation to medicine