GRCh38/hg38 Xq24(chrX:120274633-121397280)x2 AND See cases

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 2011
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:: RCV000135683.5

Allele description [Variation Report for GRCh38/hg38 Xq24(chrX:120274633-121397280)x2]

GRCh38/hg38 Xq24(chrX:120274633-121397280)x2

Genes:

LOC130068622:ATAC-STARR-seq lymphoblastoid active region 29903 [Gene]
LOC130068623:ATAC-STARR-seq lymphoblastoid active region 29904 [Gene]
LOC130068624:ATAC-STARR-seq lymphoblastoid active region 29905 [Gene]
LOC130068625:ATAC-STARR-seq lymphoblastoid active region 29906 [Gene]
LOC130068626:ATAC-STARR-seq lymphoblastoid active region 29907 [Gene]
ATP1B4:ATPase Na+/K+ transporting family member beta 4 [Gene - OMIM - HGNC]
C1GALT1C1:C1GALT1 specific chaperone 1 [Gene - OMIM - HGNC]
LOC126863313:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:119870341-119871540 [Gene]
LOC126863314:CDK7 strongly-dependent group 2 enhancer GRCh37_chrX:120331053-120332252 [Gene]
MCTS1:MCTS1 re-initiation and release factor [Gene - OMIM - HGNC]
LOC126863312:MED14-independent group 3 enhancer GRCh37_chrX:119683276-119684475 [Gene]
LOC113845788:Sharpr-MPRA regulatory region 11856 [Gene]
CT47A10:cancer/testis antigen family 47 member A10 [Gene - OMIM - HGNC]
CT47A11:cancer/testis antigen family 47 member A11 [Gene - OMIM - HGNC]
CT47A12:cancer/testis antigen family 47 member A12 [Gene - HGNC]
CT47A1:cancer/testis antigen family 47 member A1 [Gene - OMIM - HGNC]
CT47A2:cancer/testis antigen family 47 member A2 [Gene - OMIM - HGNC]
CT47A3:cancer/testis antigen family 47 member A3 [Gene - OMIM - HGNC]
CT47A4:cancer/testis antigen family 47 member A4 [Gene - OMIM - HGNC]
CT47A5:cancer/testis antigen family 47 member A5 [Gene - OMIM - HGNC]
CT47A6:cancer/testis antigen family 47 member A6 [Gene - OMIM - HGNC]
CT47A7:cancer/testis antigen family 47 member A7 [Gene - OMIM - HGNC]
CT47A8:cancer/testis antigen family 47 member A8 [Gene - OMIM - HGNC]
CT47A9:cancer/testis antigen family 47 member A9 [Gene - OMIM - HGNC]
CT47B1:cancer/testis antigen family 47 member B1 [Gene - OMIM - HGNC]
CUL4B:cullin 4B [Gene - OMIM - HGNC]
GLUD2:glutamate dehydrogenase 2 [Gene - OMIM - HGNC]
LAMP2:lysosomal associated membrane protein 2 [Gene - OMIM - HGNC]
MIR3672:microRNA 3672 [Gene - HGNC]
TMEM255A:transmembrane protein 255A [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xq24

Genomic location:

Preferred name:

GRCh38/hg38 Xq24(chrX:120274633-121397280)x2

HGVS:

NC_000023.11:g.(?_120274633)_(121397280_?)dup
NC_000023.10:g.(?_119495353)_(120531134_?)dup
NC_000023.9:g.(?_119292516)_(120358815_?)dup

Links:

dbVar: nssv706441; dbVar: nsv530528

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
SCV000175567	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Uncertain significance (Feb 18, 2011)	not provided	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

SCV000175567

ISCA site 1

See additional submitters

no assertion criteria provided

Uncertain significance
(Feb 18, 2011)

not provided

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
human	not provided	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV000175567.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	human	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	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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