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GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 14, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000138363.5

Allele description [Variation Report for GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3]

GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3

Genes:
  • LOC130068299:ATAC-STARR-seq lymphoblastoid active region 29651 [Gene]
  • LOC130068303:ATAC-STARR-seq lymphoblastoid active region 29653 [Gene]
  • LOC130068306:ATAC-STARR-seq lymphoblastoid active region 29654 [Gene]
  • LOC130068307:ATAC-STARR-seq lymphoblastoid active region 29655 [Gene]
  • LOC130068308:ATAC-STARR-seq lymphoblastoid active region 29656 [Gene]
  • LOC130068300:ATAC-STARR-seq lymphoblastoid silent region 20852 [Gene]
  • LOC130068301:ATAC-STARR-seq lymphoblastoid silent region 20853 [Gene]
  • LOC130068302:ATAC-STARR-seq lymphoblastoid silent region 20854 [Gene]
  • LOC130068304:ATAC-STARR-seq lymphoblastoid silent region 20855 [Gene]
  • LOC130068305:ATAC-STARR-seq lymphoblastoid silent region 20856 [Gene]
  • LOC130068309:ATAC-STARR-seq lymphoblastoid silent region 20857 [Gene]
  • LOC130068310:ATAC-STARR-seq lymphoblastoid silent region 20858 [Gene]
  • LOC126863263:BRD4-independent group 4 enhancer GRCh37_chrX:53619238-53620437 [Gene]
  • GPR173:G protein-coupled receptor 173 [Gene - OMIM - HGNC]
  • HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
  • KANTR:KANTR integral membrane protein [Gene - OMIM - HGNC]
  • LOC126863262:MED14-independent group 3 enhancer GRCh37_chrX:53588722-53589921 [Gene]
  • RIBC1:RIB43A domain with coiled-coils 1 [Gene - HGNC]
  • LOC121627973:Sharpr-MPRA regulatory region 13191 [Gene]
  • LOC113875033:Sharpr-MPRA regulatory region 5919 [Gene]
  • TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
  • FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
  • HSD17B10:hydroxysteroid 17-beta dehydrogenase 10 [Gene - OMIM - HGNC]
  • KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
  • MIR6857:microRNA 6857 [Gene - HGNC]
  • MIR6894:microRNA 6894 [Gene - HGNC]
  • MIR6895:microRNA 6895 [Gene - HGNC]
  • MIR98:microRNA 98 [Gene - OMIM - HGNC]
  • MIRLET7F2:microRNA let-7f-2 [Gene - OMIM - HGNC]
  • SMC1A:structural maintenance of chromosomes 1A [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
GRCh38/hg38 Xp11.22(chrX:52975325-53610511)x3
HGVS:
  • NC_000023.11:g.(?_52975325)_(53610511_?)dup
  • NC_000023.10:g.(?_53004505)_(53637472_?)dup
  • NC_000023.9:g.(?_53021230)_(53654197_?)dup
Links:
dbVar: nssv1601459; dbVar: nsv915572
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000178650ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Aug 14, 2012) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000178650.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024