U.S. flag

An official website of the United States government

GRCh38/hg38 Xq22.2(chrX:103350804-104033500)x2 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 2010
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:
RCV000133951.6

Allele description [Variation Report for GRCh38/hg38 Xq22.2(chrX:103350804-104033500)x2]

GRCh38/hg38 Xq22.2(chrX:103350804-104033500)x2

Genes:
  • LOC130068506:ATAC-STARR-seq lymphoblastoid active region 29817 [Gene]
  • LOC130068507:ATAC-STARR-seq lymphoblastoid active region 29818 [Gene]
  • LOC130068508:ATAC-STARR-seq lymphoblastoid active region 29819 [Gene]
  • LOC130068509:ATAC-STARR-seq lymphoblastoid active region 29820 [Gene]
  • LOC130068512:ATAC-STARR-seq lymphoblastoid active region 29821 [Gene]
  • LOC130068513:ATAC-STARR-seq lymphoblastoid active region 29823 [Gene]
  • LOC130068514:ATAC-STARR-seq lymphoblastoid active region 29824 [Gene]
  • LOC130068510:ATAC-STARR-seq lymphoblastoid silent region 20921 [Gene]
  • LOC130068511:ATAC-STARR-seq lymphoblastoid silent region 20922 [Gene]
  • LOC126863296:BRD4-independent group 4 enhancer GRCh37_chrX:102809676-102810875 [Gene]
  • LOC126863295:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:102610887-102612086 [Gene]
  • LOC126863297:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:103061708-103062907 [Gene]
  • H2BW1:H2B.W histone 1 [Gene - OMIM - HGNC]
  • MORF4L2-AS1:MORF4L2 antisense RNA 1 [Gene - HGNC]
  • LOC129391309:MPRA-validated peak7415 silencer [Gene]
  • RAB40A:RAB40A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RAB9B:RAB9B, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC113845781:Sharpr-MPRA regulatory region 5968 [Gene]
  • TMSB15B-AS1:TMSB15B antisense RNA 1 [Gene - HGNC]
  • BEX3:brain expressed X-linked 3 [Gene - OMIM - HGNC]
  • LINC02589:long intergenic non-protein coding RNA 2589 [Gene - HGNC]
  • MORF4L2:mortality factor 4 like 2 [Gene - OMIM - HGNC]
  • PLP1:proteolipid protein 1 [Gene - OMIM - HGNC]
  • TMSB15B:thymosin beta 15B [Gene - OMIM - HGNC]
  • TCEAL1:transcription elongation factor A like 1 [Gene - OMIM - HGNC]
  • TCEAL3:transcription elongation factor A like 3 [Gene - HGNC]
  • TCEAL4:transcription elongation factor A like 4 [Gene - HGNC]
  • TCEAL9:transcription elongation factor A like 9 [Gene - HGNC]
  • TMEM31:transmembrane protein 31 [Gene - OMIM - HGNC]
  • LL0XNC01-250H12.3:uncharacterized LL0XNC01-250H12.3 [Gene]
Variant type:
copy number gain
Cytogenetic location:
Xq22.2
Genomic location:
Preferred name:
GRCh38/hg38 Xq22.2(chrX:103350804-104033500)x2
HGVS:
  • NC_000023.11:g.(?_103350804)_(104033500_?)dup
  • NC_000023.10:g.(?_102605732)_(103288063_?)dup
  • NC_000023.9:g.(?_102492388)_(103174719_?)dup
Links:
dbVar: nssv575886; dbVar: nsv492022
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000173372ISCA site 4

See additional submitters

no assertion criteria provided
Pathogenic
(Apr 30, 2010) 		unknownclinical 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

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 4, SCV000173372.3

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

Last Updated: May 7, 2024