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GRCh38/hg38 Xp22.12(chrX:20007955-20579523)x2 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 5, 2012
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:
RCV000137623.5

Allele description [Variation Report for GRCh38/hg38 Xp22.12(chrX:20007955-20579523)x2]

GRCh38/hg38 Xp22.12(chrX:20007955-20579523)x2

Genes:
  • 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]
  • 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]
  • 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]
  • LOC126863220:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:20532054-20533253 [Gene]
  • 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]
Variant type:
copy number gain
Cytogenetic location:
Xp22.12
Genomic location:
Preferred name:
GRCh38/hg38 Xp22.12(chrX:20007955-20579523)x2
HGVS:
  • NC_000023.11:g.(?_20007955)_(20579523_?)dup
  • NC_000023.10:g.(?_20026073)_(20597641_?)dup
  • NC_000023.9:g.(?_19935994)_(20507562_?)dup
Links:
dbVar: nssv1415543; dbVar: nsv817570
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
SCV000177853ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Apr 5, 2012) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000177853.4

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

Last Updated: May 7, 2024