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GRCh38/hg38 Xq28(chrX:154791149-155996431)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000054323.5

Allele description [Variation Report for GRCh38/hg38 Xq28(chrX:154791149-155996431)x3]

GRCh38/hg38 Xq28(chrX:154791149-155996431)x3

Genes:
  • LOC130068889:ATAC-STARR-seq lymphoblastoid active region 30070 [Gene]
  • LOC130068890:ATAC-STARR-seq lymphoblastoid active region 30071 [Gene]
  • LOC130068891:ATAC-STARR-seq lymphoblastoid active region 30072 [Gene]
  • LOC130068892:ATAC-STARR-seq lymphoblastoid active region 30073 [Gene]
  • LOC130068895:ATAC-STARR-seq lymphoblastoid active region 30074 [Gene]
  • LOC130068898:ATAC-STARR-seq lymphoblastoid active region 30078 [Gene]
  • LOC130068888:ATAC-STARR-seq lymphoblastoid silent region 21119 [Gene]
  • LOC130068893:ATAC-STARR-seq lymphoblastoid silent region 21120 [Gene]
  • LOC130068894:ATAC-STARR-seq lymphoblastoid silent region 21121 [Gene]
  • LOC130068896:ATAC-STARR-seq lymphoblastoid silent region 21124 [Gene]
  • LOC130068897:ATAC-STARR-seq lymphoblastoid silent region 21125 [Gene]
  • BRCC3:BRCA1/BRCA2-containing complex subunit 3 [Gene - OMIM - HGNC]
  • CMC4:C-X9-C motif containing 4 [Gene - OMIM - HGNC]
  • FUNDC2:FUN14 domain containing 2 [Gene - OMIM - HGNC]
  • H2AB1:H2A.B variant histone 1 [Gene - OMIM - HGNC]
  • H2AB2:H2A.B variant histone 2 [Gene - OMIM - HGNC]
  • H2AB3:H2A.B variant histone 3 [Gene - OMIM - HGNC]
  • MPP1:MAGUK p55 scaffold protein 1 [Gene - OMIM - HGNC]
  • LOC126863349:P300/CBP strongly-dependent group 1 enhancer GRCh37_chrX:154195537-154196736 [Gene]
  • RAB39B:RAB39B, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC121627986:Sharpr-MPRA regulatory region 3530 [Gene]
  • LOC125467795:Sharpr-MPRA regulatory region 4209 [Gene]
  • LOC113875016:Sharpr-MPRA regulatory region 7862 [Gene]
  • TMLHE-AS1:TMLHE antisense RNA 1 [Gene - HGNC]
  • VBP1:VHL binding protein 1 [Gene - OMIM - HGNC]
  • CLIC2:chloride intracellular channel 2 [Gene - OMIM - HGNC]
  • F8A1:coagulation factor VIII associated 1 [Gene - OMIM - HGNC]
  • F8A2:coagulation factor VIII associated 2 [Gene - HGNC]
  • F8A3:coagulation factor VIII associated 3 [Gene - HGNC]
  • F8:coagulation factor VIII [Gene - OMIM - HGNC]
  • LOC106146143:int1h-1 recombination region [Gene]
  • LOC106146144:int1h-2 recombination region [Gene]
  • LOC106146150:int22h-1 recombination region [Gene]
  • LOC106146151:int22h-2 recombination region [Gene]
  • LOC106146152:int22h-3 recombination region [Gene]
  • MTCP1:mature T cell proliferation 1 [Gene - OMIM - HGNC]
  • LOC107522039:meiotic recombination hotspot PAR2 [Gene]
  • LOC107838685:meiotic recombination hotspot PAR2A [Gene]
  • MIR1184-1:microRNA 1184-1 [Gene - HGNC]
  • MIR1184-2:microRNA 1184-2 [Gene - HGNC]
  • MIR1184-3:microRNA 1184-3 [Gene - HGNC]
  • SMIM9:small integral membrane protein 9 [Gene - HGNC]
  • SPRY3:sprouty RTK signaling antagonist 3 [Gene - OMIM - HGNC]
  • TMLHE:trimethyllysine hydroxylase, epsilon [Gene - OMIM - HGNC]
  • LOC101927830:uncharacterized LOC101927830 [Gene]
  • VAMP7:vesicle associated membrane protein 7 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
Xq28
Genomic location:
Preferred name:
GRCh38/hg38 Xq28(chrX:154791149-155996431)x3
HGVS:
  • NC_000023.11:g.(?_154791149)_(155996431_?)dup
  • NC_000023.9:g.(?_153672618)_(154879290_?)dup
  • NW_003871103.3:g.(?_2225128)_(3110903_?)dup
Links:
dbVar: nssv581506; dbVar: nsv532965
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
SCV000081689GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081689.5

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

Last Updated: Oct 14, 2023