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:

Condition(s)

Name:: See cases [See the Variation display for details]
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000081689	GeneDx	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Uncertain significance (Aug 12, 2011)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000081689

GeneDx

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Uncertain significance
(Aug 12, 2011)

de novo

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	de novo	yes	1	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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