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GRCh38/hg38 Xp11.22(chrX:51707794-53229764)x0 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 18, 2014
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:
RCV000143765.7

Allele description [Variation Report for GRCh38/hg38 Xp11.22(chrX:51707794-53229764)x0]

GRCh38/hg38 Xp11.22(chrX:51707794-53229764)x0

Genes:
  • LOC130068290:ATAC-STARR-seq lymphoblastoid active region 29639 [Gene]
  • LOC130068291:ATAC-STARR-seq lymphoblastoid active region 29640 [Gene]
  • LOC130068292:ATAC-STARR-seq lymphoblastoid active region 29641 [Gene]
  • LOC130068293:ATAC-STARR-seq lymphoblastoid active region 29642 [Gene]
  • LOC130068294:ATAC-STARR-seq lymphoblastoid active region 29644 [Gene]
  • LOC130068295:ATAC-STARR-seq lymphoblastoid active region 29646 [Gene]
  • LOC130068296:ATAC-STARR-seq lymphoblastoid active region 29647 [Gene]
  • LOC130068297:ATAC-STARR-seq lymphoblastoid active region 29648 [Gene]
  • LOC130068298:ATAC-STARR-seq lymphoblastoid active region 29649 [Gene]
  • 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]
  • LOC126863259:BRD4-independent group 4 enhancer GRCh37_chrX:51666077-51667276 [Gene]
  • GPR173:G protein-coupled receptor 173 [Gene - OMIM - HGNC]
  • GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]
  • IQSEC2:IQ motif and Sec7 domain ArfGEF 2 [Gene - OMIM - HGNC]
  • KANTR:KANTR integral membrane protein [Gene - OMIM - HGNC]
  • MAGED1:MAGE family member D1 [Gene - OMIM - HGNC]
  • MAGED4:MAGE family member D4 [Gene - OMIM - HGNC]
  • MAGED4B:MAGE family member D4B [Gene - OMIM - HGNC]
  • LOC126863261:MED14-independent group 3 enhancer GRCh37_chrX:52895119-52896318 [Gene]
  • LOC126863260:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:52089469-52090668 [Gene]
  • LOC401589:Putative uncharacterized protein FLJ39060 [Gene]
  • SPANXN5:SPANX family member N5 [Gene - OMIM - HGNC]
  • SSX2:SSX family member 2 [Gene - OMIM - HGNC]
  • SSX2B:SSX family member 2B [Gene - HGNC]
  • SSX7:SSX family member 7 [Gene - OMIM - HGNC]
  • LOC113875033:Sharpr-MPRA regulatory region 5919 [Gene]
  • TSPYL2:TSPY like 2 [Gene - OMIM - HGNC]
  • XAGE1A:X antigen family member 1A [Gene - OMIM - HGNC]
  • XAGE1B:X antigen family member 1B [Gene - OMIM - HGNC]
  • XAGE2:X antigen family member 2 [Gene - OMIM - HGNC]
  • XAGE3:X antigen family member 3 [Gene - OMIM - HGNC]
  • XAGE5:X antigen family member 5 [Gene - OMIM - HGNC]
  • CENPVL1:centromere protein V like 1 [Gene - HGNC]
  • FAM156A:family with sequence similarity 156 member A [Gene - HGNC]
  • FAM156B:family with sequence similarity 156 member B [Gene - HGNC]
  • KDM5C:lysine demethylase 5C [Gene - OMIM - HGNC]
  • MIR6894:microRNA 6894 [Gene - HGNC]
  • MIR6895:microRNA 6895 [Gene - HGNC]
  • MIR8088:microRNA 8088 [Gene - HGNC]
  • SNORA11D:small nucleolar RNA, H/ACA box 11D [Gene - HGNC]
  • SNORA11E:small nucleolar RNA, H/ACA box 11E [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
GRCh38/hg38 Xp11.22(chrX:51707794-53229764)x0
HGVS:
  • NC_000023.11:g.(?_51707794)_(53229764_?)del
  • NC_000023.10:g.(?_51450890)_(53258946_?)del
  • NC_000023.9:g.(?_51467630)_(53275671_?)del
Links:
dbVar: nssv3395443; dbVar: nsv996241
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
SCV000183671ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 18, 2014) 		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, SCV000183671.4

#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