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GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 10, 2014
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:
RCV000143738.5

Allele description [Variation Report for GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2]

GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2

Genes:
  • ARL13A:ADP ribosylation factor like GTPase 13A [Gene - HGNC]
  • LOC130068492:ATAC-STARR-seq lymphoblastoid active region 29806 [Gene]
  • LOC130068493:ATAC-STARR-seq lymphoblastoid active region 29807 [Gene]
  • LOC130068494:ATAC-STARR-seq lymphoblastoid active region 29808 [Gene]
  • LOC130068495:ATAC-STARR-seq lymphoblastoid active region 29809 [Gene]
  • LOC130068496:ATAC-STARR-seq lymphoblastoid active region 29810 [Gene]
  • LOC130068497:ATAC-STARR-seq lymphoblastoid active region 29811 [Gene]
  • BTK:Bruton tyrosine kinase [Gene - OMIM - HGNC]
  • LOC126863293:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:100182110-100183309 [Gene]
  • NOX1:NADPH oxidase 1 [Gene - OMIM - HGNC]
  • RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
  • TAF7L:TATA-box binding protein associated factor 7 like [Gene - OMIM - HGNC]
  • XKRX:XK related X-linked [Gene - OMIM - HGNC]
  • ARMCX4:armadillo repeat containing X-linked 4 [Gene - OMIM - HGNC]
  • CENPI:centromere protein I [Gene - OMIM - HGNC]
  • DRP2:dystrophin related protein 2 [Gene - OMIM - HGNC]
  • GLA:galactosidase alpha [Gene - OMIM - HGNC]
  • HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]
  • RPL36A:ribosomal protein L36a [Gene - OMIM - HGNC]
  • TRMT2B:tRNA methyltransferase 2 homolog B [Gene - HGNC]
  • TIMM8A:translocase of inner mitochondrial membrane 8A [Gene - OMIM - HGNC]
  • TMEM35A:transmembrane protein 35A [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq22.1
Genomic location:
Preferred name:
GRCh38/hg38 Xq22.1(chrX:100861647-101426591)x2
HGVS:
  • NC_000023.11:g.(?_100861647)_(101426591_?)dup
  • NC_000023.10:g.(?_100116636)_(100681579_?)dup
Links:
dbVar: nssv3395344; dbVar: nsv996162
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
SCV000183592ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Mar 10, 2014) 		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 1, SCV000183592.4

#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