U.S. flag

An official website of the United States government

GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 4, 2013
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:
RCV000141518.4

Allele description

GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)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]
  • LOC129929053:ATAC-STARR-seq lymphoblastoid silent region 21039 [Gene]
  • LOC126863336:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:141891706-141892905 [Gene]
  • FMR1-AS1:FMR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • FMR1NB:FMR1 neighbor [Gene - HGNC]
  • LOC126863338:MED14-independent group 3 enhancer GRCh37_chrX:144556098-144557297 [Gene]
  • LOC126863339:MED14-independent group 3 enhancer GRCh37_chrX:144939449-144940648 [Gene]
  • LOC126863341:MED14-independent group 3 enhancer GRCh37_chrX:147636485-147637684 [Gene]
  • LOC126863337:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:143882879-143884078 [Gene]
  • LOC126863340:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:146645835-146647034 [Gene]
  • SLITRK2:SLIT and NTRK like family member 2 [Gene - OMIM - HGNC]
  • SLITRK4:SLIT and NTRK like family member 4 [Gene - OMIM - HGNC]
  • SPANXN1:SPANX family member N1 [Gene - OMIM - HGNC]
  • SPANXN2:SPANX family member N2 [Gene - OMIM - HGNC]
  • SPANXN3:SPANX family member N3 [Gene - OMIM - HGNC]
  • SPANXN4:SPANX family member N4 [Gene - OMIM - HGNC]
  • LOC125467790:Sharpr-MPRA regulatory region 6851 [Gene]
  • CXorf51A:chromosome X open reading frame 51A [Gene - HGNC]
  • CXorf51B:chromosome X open reading frame 51B [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]
  • IDS:iduronate 2-sulfatase [Gene - OMIM - 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]
  • MIR888:microRNA 888 [Gene - HGNC]
  • MIR890:microRNA 890 [Gene - HGNC]
  • MIR891A:microRNA 891a [Gene - HGNC]
  • MIR891B:microRNA 891b [Gene - HGNC]
  • MIR892A:microRNA 892a [Gene - HGNC]
  • MIR892B:microRNA 892b [Gene - HGNC]
  • MIR892C:microRNA 892c [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]
  • UBE2NL:ubiquitin conjugating enzyme E2 N like (gene/pseudogene) [Gene - HGNC]
  • LOC122319696:uncharacterized LOC122319696 [Gene]
Variant type:
copy number loss
Cytogenetic location:
Xq27.2-28
Genomic location:
Preferred name:
GRCh38/hg38 Xq27.2-28(chrX:142602008-149482800)x1
HGVS:
  • NC_000023.11:g.(?_142602008)_(149482800_?)del
  • NC_000023.10:g.(?_141689794)_(147944759_?)del
  • NC_000023.9:g.(?_141517460)_(148372236_?)del
Links:
dbVar: nssv3395656; dbVar: nsv995011
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
SCV000182435ISCA site 2

See additional submitters

no assertion criteria provided
Pathogenic
(Feb 4, 2013) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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 2, SCV000182435.3

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

Last Updated: Oct 14, 2023