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GRCh38/hg38 Xq26.3(chrX:136145095-136556106)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 5, 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:
RCV000137022.5

Allele description [Variation Report for GRCh38/hg38 Xq26.3(chrX:136145095-136556106)x3]

GRCh38/hg38 Xq26.3(chrX:136145095-136556106)x3

Genes:
  • LOC130068748:ATAC-STARR-seq lymphoblastoid silent region 21026 [Gene]
  • LOC130068749:ATAC-STARR-seq lymphoblastoid silent region 21027 [Gene]
  • HTATSF1:HIV-1 Tat specific factor 1 [Gene - OMIM - HGNC]
  • MAP7D3:MAP7 domain containing 3 [Gene - OMIM - HGNC]
  • LOC126863329:MED14-independent group 3 enhancer GRCh37_chrX:135468612-135469811 [Gene]
  • LOC126863328:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:135434931-135436130 [Gene]
  • LOC125467787:Sharpr-MPRA regulatory region 1893 [Gene]
  • ADGRG4:adhesion G protein-coupled receptor G4 [Gene - OMIM - HGNC]
  • BRS3:bombesin receptor subtype 3 [Gene - OMIM - HGNC]
  • FHL1:four and a half LIM domains 1 [Gene - OMIM - HGNC]
  • MIR934:microRNA 934 [Gene - HGNC]
  • VGLL1:vestigial like family member 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq26.3
Genomic location:
Preferred name:
GRCh38/hg38 Xq26.3(chrX:136145095-136556106)x3
HGVS:
  • NC_000023.11:g.(?_136145095)_(136556106_?)dup
  • NC_000023.10:g.(?_135227254)_(135638265_?)dup
  • NC_000023.9:g.(?_135054920)_(135465931_?)dup
Links:
dbVar: nssv582413; dbVar: nsv534420
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
SCV000177197ISCA site 10

See additional submitters

no assertion criteria provided
Uncertain significance
(Feb 5, 2013) 		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 10, SCV000177197.3

#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