GRCh38/hg38 Xq26.2(chrX:131591045-132007449)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:: RCV000050799.6

Allele description [Variation Report for GRCh38/hg38 Xq26.2(chrX:131591045-132007449)x3]

GRCh38/hg38 Xq26.2(chrX:131591045-132007449)x3

Genes:

LOC130068691:ATAC-STARR-seq lymphoblastoid active region 29949 [Gene]
LOC130068692:ATAC-STARR-seq lymphoblastoid active region 29950 [Gene]
LOC130068693:ATAC-STARR-seq lymphoblastoid active region 29951 [Gene]
LOC130068694:ATAC-STARR-seq lymphoblastoid active region 29952 [Gene]
LOC130068695:ATAC-STARR-seq lymphoblastoid active region 29953 [Gene]
LOC130068696:ATAC-STARR-seq lymphoblastoid active region 29954 [Gene]
LOC130068697:ATAC-STARR-seq lymphoblastoid active region 29955 [Gene]
LOC130068698:ATAC-STARR-seq lymphoblastoid active region 29956 [Gene]
LOC130068699:ATAC-STARR-seq lymphoblastoid active region 29957 [Gene]
LOC130068700:ATAC-STARR-seq lymphoblastoid active region 29958 [Gene]
LOC130068701:ATAC-STARR-seq lymphoblastoid active region 29959 [Gene]
LOC130068702:ATAC-STARR-seq lymphoblastoid active region 29960 [Gene]
LOC130068703:ATAC-STARR-seq lymphoblastoid active region 29961 [Gene]
LOC130068704:ATAC-STARR-seq lymphoblastoid active region 29962 [Gene]
LOC130068705:ATAC-STARR-seq lymphoblastoid active region 29963 [Gene]
LOC130068706:ATAC-STARR-seq lymphoblastoid active region 29964 [Gene]
LOC130068707:ATAC-STARR-seq lymphoblastoid active region 29965 [Gene]
LOC130068709:ATAC-STARR-seq lymphoblastoid active region 29966 [Gene]
LOC130068710:ATAC-STARR-seq lymphoblastoid active region 29967 [Gene]
LOC130068690:ATAC-STARR-seq lymphoblastoid silent region 21000 [Gene]
LOC130068708:ATAC-STARR-seq lymphoblastoid silent region 21002 [Gene]
LOC126863319:MED14-independent group 3 enhancer GRCh37_chrX:131057048-131058247 [Gene]
LOC129391314:MPRA-validated peak7427 silencer [Gene]
LOC121627981:Sharpr-MPRA regulatory region 13107 [Gene]
LOC121627980:Sharpr-MPRA regulatory region 13451 [Gene]
LOC121853068:Sharpr-MPRA regulatory region 3545 [Gene]
LOC113875011:Sharpr-MPRA regulatory region 4069 [Gene]
LOC113875010:Sharpr-MPRA regulatory region 5272 [Gene]
FIRRE:firre intergenic repeating RNA element [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xq26.2

Genomic location:

Preferred name:

GRCh38/hg38 Xq26.2(chrX:131591045-132007449)x3

HGVS:

NC_000023.11:g.(?_131591045)_(132007449_?)dup
NC_000023.10:g.(?_130725019)_(131141477_?)dup
NC_000023.9:g.(?_130552700)_(130969158_?)dup

Links:

dbVar: nssv581482; dbVar: nsv529394

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Taxonomy Links for Gene (Select 5244) (1)
Taxonomy

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000078132	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)	paternal	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

SCV000078132

ISCA site 4

See additional submitters

criteria provided, single submitter

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

Uncertain significance
(Aug 12, 2011)

paternal

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	paternal	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 ISCA site 4, SCV000078132.5

#	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	paternal	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

ClinVar

Relating variation to medicine