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GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 2011
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:
RCV000137412.5

Allele description [Variation Report for GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2]

GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2

Genes:
  • ALAS2:5'-aminolevulinate synthase 2 [Gene - OMIM - HGNC]
  • PFKFB1:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 [Gene - OMIM - HGNC]
  • LOC108663984:ALAS2 intron 1 and 3 erythroid regulatory elements [Gene]
  • LOC108511947:ALAS2 intronic erythroid enhancer [Gene]
  • LOC130068317:ATAC-STARR-seq lymphoblastoid active region 29668 [Gene]
  • LOC130068319:ATAC-STARR-seq lymphoblastoid active region 29669 [Gene]
  • LOC130068323:ATAC-STARR-seq lymphoblastoid active region 29670 [Gene]
  • LOC130068325:ATAC-STARR-seq lymphoblastoid active region 29672 [Gene]
  • LOC130068326:ATAC-STARR-seq lymphoblastoid active region 29673 [Gene]
  • LOC130068327:ATAC-STARR-seq lymphoblastoid active region 29675 [Gene]
  • LOC130068329:ATAC-STARR-seq lymphoblastoid active region 29677 [Gene]
  • LOC130068330:ATAC-STARR-seq lymphoblastoid active region 29678 [Gene]
  • LOC130068331:ATAC-STARR-seq lymphoblastoid active region 29680 [Gene]
  • LOC130068333:ATAC-STARR-seq lymphoblastoid active region 29681 [Gene]
  • LOC130068334:ATAC-STARR-seq lymphoblastoid active region 29682 [Gene]
  • LOC130068336:ATAC-STARR-seq lymphoblastoid active region 29683 [Gene]
  • LOC130068337:ATAC-STARR-seq lymphoblastoid active region 29684 [Gene]
  • LOC130068338:ATAC-STARR-seq lymphoblastoid active region 29686 [Gene]
  • LOC130068339:ATAC-STARR-seq lymphoblastoid active region 29687 [Gene]
  • LOC130068340:ATAC-STARR-seq lymphoblastoid active region 29688 [Gene]
  • LOC130068341:ATAC-STARR-seq lymphoblastoid active region 29689 [Gene]
  • LOC130068343:ATAC-STARR-seq lymphoblastoid active region 29690 [Gene]
  • LOC130068344:ATAC-STARR-seq lymphoblastoid active region 29691 [Gene]
  • LOC130068345:ATAC-STARR-seq lymphoblastoid active region 29693 [Gene]
  • LOC130068346:ATAC-STARR-seq lymphoblastoid active region 29694 [Gene]
  • LOC130068347:ATAC-STARR-seq lymphoblastoid active region 29695 [Gene]
  • LOC130068348:ATAC-STARR-seq lymphoblastoid active region 29696 [Gene]
  • LOC130068349:ATAC-STARR-seq lymphoblastoid active region 29697 [Gene]
  • LOC130068350:ATAC-STARR-seq lymphoblastoid active region 29698 [Gene]
  • LOC130068351:ATAC-STARR-seq lymphoblastoid active region 29699 [Gene]
  • LOC130068352:ATAC-STARR-seq lymphoblastoid active region 29700 [Gene]
  • LOC130068353:ATAC-STARR-seq lymphoblastoid active region 29701 [Gene]
  • LOC130068355:ATAC-STARR-seq lymphoblastoid active region 29702 [Gene]
  • LOC130068359:ATAC-STARR-seq lymphoblastoid active region 29703 [Gene]
  • LOC130068318:ATAC-STARR-seq lymphoblastoid silent region 20860 [Gene]
  • LOC130068320:ATAC-STARR-seq lymphoblastoid silent region 20861 [Gene]
  • LOC130068321:ATAC-STARR-seq lymphoblastoid silent region 20862 [Gene]
  • LOC130068322:ATAC-STARR-seq lymphoblastoid silent region 20863 [Gene]
  • LOC130068324:ATAC-STARR-seq lymphoblastoid silent region 20864 [Gene]
  • LOC130068328:ATAC-STARR-seq lymphoblastoid silent region 20865 [Gene]
  • LOC130068332:ATAC-STARR-seq lymphoblastoid silent region 20867 [Gene]
  • LOC130068335:ATAC-STARR-seq lymphoblastoid silent region 20868 [Gene]
  • LOC130068342:ATAC-STARR-seq lymphoblastoid silent region 20869 [Gene]
  • LOC130068354:ATAC-STARR-seq lymphoblastoid silent region 20870 [Gene]
  • LOC130068356:ATAC-STARR-seq lymphoblastoid silent region 20871 [Gene]
  • LOC130068357:ATAC-STARR-seq lymphoblastoid silent region 20872 [Gene]
  • LOC130068358:ATAC-STARR-seq lymphoblastoid silent region 20873 [Gene]
  • LOC126863265:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:55945424-55946623 [Gene]
  • LOC116309156:CRISPRi-validated cis-regulatory element chrX.1184 [Gene]
  • FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
  • GNL3L:G protein nucleolar 3 like [Gene - OMIM - HGNC]
  • KLF8:KLF transcription factor 8 [Gene - OMIM - HGNC]
  • MAGED2:MAGE family member D2 [Gene - OMIM - HGNC]
  • MAGEH1:MAGE family member H1 [Gene - OMIM - HGNC]
  • LOC126863266:MED14-independent group 3 enhancer GRCh37_chrX:57143727-57144926 [Gene]
  • LOC129391301:MPRA-validated peak7381 silencer [Gene]
  • LOC129391302:MPRA-validated peak7382 silencer [Gene]
  • LOC129391303:MPRA-validated peak7383 silencer [Gene]
  • MTRNR2L10:MT-RNR2 like 10 [Gene - HGNC]
  • NLRP2B:NLR family pyrin domain containing 2B [Gene - HGNC]
  • PAGE2:PAGE family member 2 [Gene - OMIM - HGNC]
  • PAGE2B:PAGE family member 2B [Gene - HGNC]
  • PAGE3:PAGE family member 3 [Gene - OMIM - HGNC]
  • PAGE5:PAGE family member 5 [Gene - OMIM - HGNC]
  • PHF8:PHD finger protein 8 [Gene - OMIM - HGNC]
  • RRAGB:Ras related GTP binding B [Gene - OMIM - HGNC]
  • LOC125467756:Sharpr-MPRA regulatory region 14361 [Gene]
  • LOC125467755:Sharpr-MPRA regulatory region 15663 [Gene]
  • LOC125467753:Sharpr-MPRA regulatory region 5322 [Gene]
  • LOC121853058:Sharpr-MPRA regulatory region 7453 [Gene]
  • LOC125467754:Sharpr-MPRA regulatory region 9958 [Gene]
  • LOC111828531:Sharpr-MPRA regulatory regions 2439 and 5762 [Gene]
  • TSR2:TSR2 ribosome maturation factor [Gene - OMIM - HGNC]
  • VCF2:VCP nuclear cofactor family member 2 [Gene - HGNC]
  • WNK3:WNK lysine deficient protein kinase 3 [Gene - OMIM - HGNC]
  • XAGE-4:XAGE-4 protein [Gene]
  • APEX2:apurinic/apyrimidinic endodeoxyribonuclease 2 [Gene - OMIM - HGNC]
  • FAM120C:family with sequence similarity 120 member C [Gene - OMIM - HGNC]
  • FAAH2:fatty acid amide hydrolase 2 [Gene - OMIM - HGNC]
  • FOXR2:forkhead box R2 [Gene - OMIM - HGNC]
  • ITIH6:inter-alpha-trypsin inhibitor heavy chain family member 6 [Gene - HGNC]
  • MIR4536-1:microRNA 4536-1 [Gene - HGNC]
  • MIR4536-2:microRNA 4536-2 [Gene - HGNC]
  • NBDY:negative regulator of P-body association [Gene - OMIM - HGNC]
  • SNORA109:small nucleolar RNA, H/ACA box 109 [Gene - HGNC]
  • SNORA11:small nucleolar RNA, H/ACA box 11 [Gene - OMIM - HGNC]
  • SNORA11G:small nucleolar RNA, H/ACA box 11G [Gene - HGNC]
  • SPIN2A:spindlin family member 2A [Gene - OMIM - HGNC]
  • SPIN2B:spindlin family member 2B [Gene - OMIM - HGNC]
  • SPIN3:spindlin family member 3 [Gene - HGNC]
  • TRO:trophinin [Gene - OMIM - HGNC]
  • UBQLN2:ubiquilin 2 [Gene - OMIM - HGNC]
  • USP51:ubiquitin specific peptidase 51 [Gene - HGNC]
  • ZXDA:zinc finger X-linked duplicated A [Gene - OMIM - HGNC]
  • ZXDB:zinc finger X-linked duplicated B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xp11.22-q11.1
Genomic location:
Preferred name:
GRCh38/hg38 Xp11.22-q11.1(chrX:53750365-63089185)x2
HGVS:
  • NC_000023.11:g.(?_53750365)_(63089185_?)dup
  • NC_000023.10:g.(?_53776863)_(62203737_?)dup
  • NC_000023.9:g.(?_53793588)_(62225380_?)dup
Links:
dbVar: nssv1415249; dbVar: nsv817338
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
SCV000177632ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 5, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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 1, SCV000177632.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024