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GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1 AND See cases

Germline classification:
Pathogenic (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:
RCV000051748.4

Allele description [Variation Report for GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1]

GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1

Genes:
  • AFF2:ALF transcription elongation factor 2 [Gene - OMIM - HGNC]
  • LOC129929048:ATAC-STARR-seq lymphoblastoid active region 30006 [Gene]
  • LOC129929049:ATAC-STARR-seq lymphoblastoid active region 30007 [Gene]
  • LOC130068774:ATAC-STARR-seq lymphoblastoid active region 30008 [Gene]
  • LOC130068775:ATAC-STARR-seq lymphoblastoid active region 30009 [Gene]
  • LOC130068776:ATAC-STARR-seq lymphoblastoid active region 30010 [Gene]
  • LOC130068777:ATAC-STARR-seq lymphoblastoid active region 30011 [Gene]
  • LOC130068778:ATAC-STARR-seq lymphoblastoid active region 30012 [Gene]
  • LOC130068779:ATAC-STARR-seq lymphoblastoid active region 30013 [Gene]
  • LOC130068780:ATAC-STARR-seq lymphoblastoid active region 30014 [Gene]
  • LOC130068781:ATAC-STARR-seq lymphoblastoid active region 30015 [Gene]
  • LOC130068785:ATAC-STARR-seq lymphoblastoid active region 30016 [Gene]
  • LOC130068788:ATAC-STARR-seq lymphoblastoid active region 30017 [Gene]
  • LOC130068789:ATAC-STARR-seq lymphoblastoid active region 30018 [Gene]
  • LOC130068790:ATAC-STARR-seq lymphoblastoid active region 30019 [Gene]
  • LOC130068791:ATAC-STARR-seq lymphoblastoid active region 30020 [Gene]
  • LOC129929053:ATAC-STARR-seq lymphoblastoid silent region 21039 [Gene]
  • LOC130068782:ATAC-STARR-seq lymphoblastoid silent region 21041 [Gene]
  • LOC130068783:ATAC-STARR-seq lymphoblastoid silent region 21042 [Gene]
  • LOC130068784:ATAC-STARR-seq lymphoblastoid silent region 21043 [Gene]
  • LOC130068786:ATAC-STARR-seq lymphoblastoid silent region 21044 [Gene]
  • LOC130068787:ATAC-STARR-seq lymphoblastoid silent region 21045 [Gene]
  • LOC130068792:ATAC-STARR-seq lymphoblastoid silent region 21046 [Gene]
  • LOC130068793:ATAC-STARR-seq lymphoblastoid silent region 21047 [Gene]
  • LOC130068794:ATAC-STARR-seq lymphoblastoid silent region 21048 [Gene]
  • LOC130068795:ATAC-STARR-seq lymphoblastoid silent region 21049 [Gene]
  • LOC126863342:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:148591963-148593162 [Gene]
  • EOLA1-DT:EOLA1 divergent transcript [Gene - HGNC]
  • EOLA2-DT:EOLA2 divergent transcript [Gene - HGNC]
  • FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • FMR1NB:FMR1 neighbor [Gene - HGNC]
  • LOC109396974:FRAXF repeat instability region [Gene]
  • LOC106050102:IDS recombination region [Gene]
  • LOC106050103:IDSP1 recombination region [Gene]
  • MAGEA11:MAGE family member A11 [Gene - OMIM - HGNC]
  • MAGEA8:MAGE family member A8 [Gene - OMIM - HGNC]
  • MAGEA9:MAGE family member A9 [Gene - OMIM - HGNC]
  • MAGEA9B:MAGE family member A9B [Gene - OMIM - HGNC]
  • MAGEA8-AS1:MAGEA8 antisense RNA 1 [Gene - HGNC]
  • LOC126863341:MED14-independent group 3 enhancer GRCh37_chrX:147636485-147637684 [Gene]
  • LOC126863340:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:146645835-146647034 [Gene]
  • LOC121627983:Sharpr-MPRA regulatory region 15241 [Gene]
  • LOC125467790:Sharpr-MPRA regulatory region 6851 [Gene]
  • EOLA1:endothelium and lymphocyte associated ASCH domain 1 [Gene - OMIM - HGNC]
  • EOLA2:endothelium and lymphocyte associated ASCH domain 2 [Gene - HGNC]
  • FMR1:fragile X messenger ribonucleoprotein 1 [Gene - OMIM - HGNC]
  • FRAXA:fragile site, folic acid type, rare, fra(X)(q27.3) A [Gene - HGNC]
  • FRAXE:fragile site, folic acid type, rare, fra(X)(q28) E [Gene - HGNC]
  • HSFX1:heat shock transcription factor family, X-linked 1 [Gene - HGNC]
  • HSFX2:heat shock transcription factor family, X-linked 2 [Gene - HGNC]
  • HSFX3:heat shock transcription factor family, X-linked member 3 [Gene - HGNC]
  • HSFX4:heat shock transcription factor family, X-linked member 4 [Gene - HGNC]
  • IDS:iduronate 2-sulfatase [Gene - OMIM - HGNC]
  • LINC00850:long intergenic non-protein coding RNA 850 [Gene - OMIM - HGNC]
  • MAMLD1:mastermind like domain containing 1 [Gene - OMIM - HGNC]
  • MIR2114:microRNA 2114 [Gene - HGNC]
  • MIR506:microRNA 506 [Gene - OMIM - HGNC]
  • MIR507:microRNA 507 [Gene - HGNC]
  • MIR508:microRNA 508 [Gene - OMIM - HGNC]
  • MIR509-1:microRNA 509-1 [Gene - OMIM - HGNC]
  • MIR509-2:microRNA 509-2 [Gene - HGNC]
  • MIR509-3:microRNA 509-3 [Gene - OMIM - HGNC]
  • MIR510:microRNA 510 [Gene - OMIM - HGNC]
  • MIR513A1:microRNA 513a-1 [Gene - HGNC]
  • MIR513A2:microRNA 513a-2 [Gene - HGNC]
  • MIR513B:microRNA 513b [Gene - HGNC]
  • MIR513C:microRNA 513c [Gene - HGNC]
  • MIR514A1:microRNA 514a-1 [Gene - HGNC]
  • MIR514A2:microRNA 514a-2 [Gene - HGNC]
  • MIR514A3:microRNA 514a-3 [Gene - HGNC]
  • MIR514B:microRNA 514b [Gene - HGNC]
  • LOC107048984:origin of replication in 5' region of AFF2/FMR2 [Gene]
  • LOC107032825:origin of replication in 5' region of FMR1 [Gene]
  • LOC107048982:origin of replication upstream of FMR1 [Gene]
  • TMEM185A:transmembrane protein 185A [Gene - OMIM - HGNC]
  • LOC122319696:uncharacterized LOC122319696 [Gene]
Variant type:
copy number loss
Cytogenetic location:
Xq27.3-28
Genomic location:
Preferred name:
GRCh38/hg38 Xq27.3-28(chrX:147151996-150364798)x1
HGVS:
  • NC_000023.11:g.(?_147151996)_(150364798_?)del
  • NC_000023.9:g.(?_146041206)_(149283723_?)del
  • NW_004070890.2:g.(?_2676387)_(5744560_?)del
Links:
dbVar: nssv578477; dbVar: nsv530269
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
SCV000079096GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not providednot providednot providednot providedclinical 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, SCV000079096.4

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

Last Updated: Oct 14, 2023