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GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3 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:
RCV000052384.4

Allele description [Variation Report for GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3]

GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3

Genes:
  • LOC130068005:ATAC-STARR-seq lymphoblastoid active region 29464 [Gene]
  • LOC130068006:ATAC-STARR-seq lymphoblastoid active region 29465 [Gene]
  • LOC130068007:ATAC-STARR-seq lymphoblastoid active region 29466 [Gene]
  • LOC130068008:ATAC-STARR-seq lymphoblastoid active region 29467 [Gene]
  • LOC130068011:ATAC-STARR-seq lymphoblastoid active region 29468 [Gene]
  • LOC130068013:ATAC-STARR-seq lymphoblastoid active region 29469 [Gene]
  • LOC130068014:ATAC-STARR-seq lymphoblastoid active region 29470 [Gene]
  • LOC130068015:ATAC-STARR-seq lymphoblastoid active region 29471 [Gene]
  • LOC130068016:ATAC-STARR-seq lymphoblastoid active region 29472 [Gene]
  • LOC130068017:ATAC-STARR-seq lymphoblastoid active region 29473 [Gene]
  • LOC130068018:ATAC-STARR-seq lymphoblastoid active region 29474 [Gene]
  • LOC130068019:ATAC-STARR-seq lymphoblastoid active region 29475 [Gene]
  • LOC130068023:ATAC-STARR-seq lymphoblastoid active region 29476 [Gene]
  • LOC130068027:ATAC-STARR-seq lymphoblastoid active region 29477 [Gene]
  • LOC130068028:ATAC-STARR-seq lymphoblastoid active region 29478 [Gene]
  • LOC130068029:ATAC-STARR-seq lymphoblastoid active region 29479 [Gene]
  • LOC130068030:ATAC-STARR-seq lymphoblastoid active region 29480 [Gene]
  • LOC130068031:ATAC-STARR-seq lymphoblastoid active region 29481 [Gene]
  • LOC130068034:ATAC-STARR-seq lymphoblastoid active region 29482 [Gene]
  • LOC130068035:ATAC-STARR-seq lymphoblastoid active region 29483 [Gene]
  • LOC130068036:ATAC-STARR-seq lymphoblastoid active region 29484 [Gene]
  • LOC130068009:ATAC-STARR-seq lymphoblastoid silent region 20687 [Gene]
  • LOC130068010:ATAC-STARR-seq lymphoblastoid silent region 20688 [Gene]
  • LOC130068012:ATAC-STARR-seq lymphoblastoid silent region 20689 [Gene]
  • LOC130068020:ATAC-STARR-seq lymphoblastoid silent region 20690 [Gene]
  • LOC130068021:ATAC-STARR-seq lymphoblastoid silent region 20691 [Gene]
  • LOC130068022:ATAC-STARR-seq lymphoblastoid silent region 20692 [Gene]
  • LOC130068024:ATAC-STARR-seq lymphoblastoid silent region 20693 [Gene]
  • LOC130068025:ATAC-STARR-seq lymphoblastoid silent region 20694 [Gene]
  • LOC130068026:ATAC-STARR-seq lymphoblastoid silent region 20695 [Gene]
  • LOC130068032:ATAC-STARR-seq lymphoblastoid silent region 20696 [Gene]
  • LOC130068033:ATAC-STARR-seq lymphoblastoid silent region 20697 [Gene]
  • LOC130068037:ATAC-STARR-seq lymphoblastoid silent region 20698 [Gene]
  • BCLAF3:BCLAF1 and THRAP3 family member 3 [Gene - HGNC]
  • LOC126863219:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:20504565-20505764 [Gene]
  • EIF1AX-AS1:EIF1AX antisense RNA 1 [Gene - HGNC]
  • MAP7D2:MAP7 domain containing 2 [Gene - HGNC]
  • LOC126863218:MED14-independent group 3 enhancer GRCh37_chrX:19643274-19644473 [Gene]
  • LOC126863220:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:20532054-20533253 [Gene]
  • SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]
  • LOC125446274:Sharpr-MPRA regulatory region 100 [Gene]
  • LOC121627962:Sharpr-MPRA regulatory region 15471 [Gene]
  • EIF1AX:eukaryotic translation initiation factor 1A X-linked [Gene - OMIM - HGNC]
  • MIR23C:microRNA 23c [Gene - HGNC]
  • RPS6KA3:ribosomal protein S6 kinase A3 [Gene - OMIM - HGNC]
  • SCARNA9L:small Cajal body-specific RNA 9 like [Gene - HGNC]
  • LOC729609:uncharacterized LOC729609 [Gene]
Variant type:
copy number gain
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
GRCh38/hg38 Xp22.12(chrX:19624798-20573750)x3
HGVS:
  • NC_000023.11:g.(?_19624798)_(20573750_?)dup
  • NC_000023.10:g.(?_19642916)_(20591868_?)dup
  • NC_000023.9:g.(?_19552837)_(20501789_?)dup
Links:
dbVar: nssv579201; dbVar: nsv531094
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
SCV000079736GeneDx
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, SCV000079736.4

#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