GRCh38/hg38 22q13.2(chr22:40860894-41306006)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:: RCV000050897.4

Allele description [Variation Report for GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3]

GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3

Genes:

LOC130067524:ATAC-STARR-seq lymphoblastoid active region 19103 [Gene]
LOC130067525:ATAC-STARR-seq lymphoblastoid active region 19104 [Gene]
LOC130067526:ATAC-STARR-seq lymphoblastoid active region 19105 [Gene]
LOC130067530:ATAC-STARR-seq lymphoblastoid active region 19106 [Gene]
LOC130067531:ATAC-STARR-seq lymphoblastoid active region 19107 [Gene]
LOC130067532:ATAC-STARR-seq lymphoblastoid active region 19108 [Gene]
LOC130067533:ATAC-STARR-seq lymphoblastoid active region 19109 [Gene]
LOC130067534:ATAC-STARR-seq lymphoblastoid active region 19110 [Gene]
LOC130067535:ATAC-STARR-seq lymphoblastoid active region 19111 [Gene]
LOC130067536:ATAC-STARR-seq lymphoblastoid active region 19112 [Gene]
LOC130067527:ATAC-STARR-seq lymphoblastoid silent region 13777 [Gene]
LOC130067528:ATAC-STARR-seq lymphoblastoid silent region 13778 [Gene]
LOC130067529:ATAC-STARR-seq lymphoblastoid silent region 13779 [Gene]
LOC130067537:ATAC-STARR-seq lymphoblastoid silent region 13783 [Gene]
LOC126863158:BRD4-independent group 4 enhancer GRCh37_chr22:41547383-41548582 [Gene]
DNAJB7:DnaJ heat shock protein family (Hsp40) member B7 [Gene - OMIM - HGNC]
EP300:E1A binding protein p300 [Gene - OMIM - HGNC]
EP300-AS1:EP300 antisense RNA 1 [Gene - HGNC]
L3MBTL2:L3MBTL histone methyl-lysine binding protein 2 [Gene - OMIM - HGNC]
L3MBTL2-AS1:L3MBTL2 antisense RNA 1 [Gene - HGNC]
RANGAP1:Ran GTPase activating protein 1 [Gene - OMIM - HGNC]
LOC125446243:Sharpr-MPRA regulatory region 10804 [Gene]
LOC112695097:Sharpr-MPRA regulatory region 14092 [Gene]
XPNPEP3:X-prolyl aminopeptidase 3 [Gene - OMIM - HGNC]
CHADL:chondroadherin like [Gene - OMIM - HGNC]
MIR1281:microRNA 1281 [Gene - HGNC]
MIR6889:microRNA 6889 [Gene - HGNC]
RBX1:ring-box 1 [Gene - OMIM - HGNC]
SNORD140:small nucleolar RNA, C/D box 140 [Gene - HGNC]
ZC3H7B:zinc finger CCCH-type containing 7B [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

22q13.2

Genomic location:

Preferred name:

GRCh38/hg38 22q13.2(chr22:40860894-41306006)x3

HGVS:

NC_000022.11:g.(?_40860894)_(41306006_?)dup
NC_000022.10:g.(?_41256898)_(41702010_?)dup
NC_000022.9:g.(?_39586844)_(40031956_?)dup

Links:

dbVar: nssv581077; dbVar: nssv581078; dbVar: nsv529476

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
SCV000078230	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	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

SCV000078230

ISCA site 4

See additional submitters

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	2	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 ISCA site 4, SCV000078230.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	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
2	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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