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GRCh38/hg38 Xp22.2(chrX:12994517-13957317)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 9, 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:
RCV000143184.4

Allele description [Variation Report for GRCh38/hg38 Xp22.2(chrX:12994517-13957317)x3]

GRCh38/hg38 Xp22.2(chrX:12994517-13957317)x3

Genes:
  • LOC130067954:ATAC-STARR-seq lymphoblastoid active region 29426 [Gene]
  • LOC130067955:ATAC-STARR-seq lymphoblastoid active region 29427 [Gene]
  • LOC130067956:ATAC-STARR-seq lymphoblastoid active region 29428 [Gene]
  • LOC130067957:ATAC-STARR-seq lymphoblastoid active region 29429 [Gene]
  • LOC130067958:ATAC-STARR-seq lymphoblastoid active region 29430 [Gene]
  • LOC130067960:ATAC-STARR-seq lymphoblastoid active region 29431 [Gene]
  • LOC130067961:ATAC-STARR-seq lymphoblastoid active region 29432 [Gene]
  • LOC130067962:ATAC-STARR-seq lymphoblastoid active region 29433 [Gene]
  • LOC130067963:ATAC-STARR-seq lymphoblastoid active region 29434 [Gene]
  • LOC130067964:ATAC-STARR-seq lymphoblastoid active region 29435 [Gene]
  • LOC130067965:ATAC-STARR-seq lymphoblastoid active region 29436 [Gene]
  • LOC130067966:ATAC-STARR-seq lymphoblastoid active region 29437 [Gene]
  • LOC130067968:ATAC-STARR-seq lymphoblastoid active region 29438 [Gene]
  • LOC130067969:ATAC-STARR-seq lymphoblastoid active region 29439 [Gene]
  • LOC130067970:ATAC-STARR-seq lymphoblastoid active region 29440 [Gene]
  • LOC130067971:ATAC-STARR-seq lymphoblastoid active region 29442 [Gene]
  • LOC130067972:ATAC-STARR-seq lymphoblastoid active region 29444 [Gene]
  • LOC130067976:ATAC-STARR-seq lymphoblastoid active region 29445 [Gene]
  • LOC130067953:ATAC-STARR-seq lymphoblastoid silent region 20664 [Gene]
  • LOC130067959:ATAC-STARR-seq lymphoblastoid silent region 20665 [Gene]
  • LOC130067967:ATAC-STARR-seq lymphoblastoid silent region 20666 [Gene]
  • LOC130067973:ATAC-STARR-seq lymphoblastoid silent region 20667 [Gene]
  • LOC130067974:ATAC-STARR-seq lymphoblastoid silent region 20668 [Gene]
  • LOC130067975:ATAC-STARR-seq lymphoblastoid silent region 20669 [Gene]
  • LOC126863213:BRD4-independent group 4 enhancer GRCh37_chrX:13845691-13846890 [Gene]
  • LOC126863212:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:13752241-13753440 [Gene]
  • EGFL6:EGF like domain multiple 6 [Gene - OMIM - HGNC]
  • OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]
  • LOC126863211:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:13687079-13688278 [Gene]
  • RAB9A:RAB9A, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC125446272:Sharpr-MPRA regulatory region 14622 [Gene]
  • ATXN3L:ataxin 3 like [Gene - OMIM - HGNC]
  • FAM9C:family with sequence similarity 9 member C [Gene - OMIM - HGNC]
  • GPM6B:glycoprotein M6B [Gene - OMIM - HGNC]
  • LINC01203:long intergenic non-protein coding RNA 1203 [Gene - HGNC]
  • LINC02154:long intergenic non-protein coding RNA 2154 [Gene - HGNC]
  • MIR6086:microRNA 6086 [Gene - HGNC]
  • TRAPPC2:trafficking protein particle complex subunit 2 [Gene - OMIM - HGNC]
  • TCEANC:transcription elongation factor A N-terminal and central domain containing [Gene - OMIM - HGNC]
  • LOC105373133:uncharacterized LOC105373133 [Gene]
  • LOC107985657:uncharacterized LOC107985657 [Gene]
  • GS1-600G8.3:unknown transcript [Gene]
Variant type:
copy number gain
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
GRCh38/hg38 Xp22.2(chrX:12994517-13957317)x3
HGVS:
  • NC_000023.11:g.(?_12994517)_(13957317_?)dup
  • NC_000023.10:g.(?_13012636)_(13975436_?)dup
  • NC_000023.9:g.(?_12922557)_(13885357_?)dup
Links:
dbVar: nssv1610097; dbVar: nsv931927
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
SCV000181419ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 9, 2013) 		not providedclinical 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, SCV000181419.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023