GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 1, 2016
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:: RCV000512561.3

Allele description [Variation Report for GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4]

GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4

Genes:

AKAP4:A-kinase anchoring protein 4 [Gene - OMIM - HGNC]
EBP:EBP cholestenol delta-isomerase [Gene - OMIM - HGNC]
ERAS:ES cell expressed Ras [Gene - OMIM - HGNC]
FTSJ1:FtsJ RNA 2'-O-methyltransferase 1 [Gene - OMIM - HGNC]
GAGE12B:G antigen 12B [Gene - HGNC]
GAGE12C:G antigen 12C [Gene - OMIM - HGNC]
GAGE12D:G antigen 12D [Gene - OMIM - HGNC]
GAGE12E:G antigen 12E [Gene - OMIM - HGNC]
GAGE12F:G antigen 12F [Gene - OMIM - HGNC]
GAGE12G:G antigen 12G [Gene - OMIM - HGNC]
GAGE12H:G antigen 12H [Gene - OMIM - HGNC]
GAGE12I:G antigen 12I [Gene - OMIM - HGNC]
GAGE12J:G antigen 12J [Gene - OMIM - HGNC]
GAGE13:G antigen 13 [Gene - OMIM - HGNC]
GAGE1:G antigen 1 [Gene - OMIM - HGNC]
GAGE2A:G antigen 2A [Gene - OMIM - HGNC]
GAGE2B:G antigen 2B [Gene - OMIM - HGNC]
GAGE2C:G antigen 2C [Gene - OMIM - HGNC]
GAGE2D:G antigen 2D [Gene - OMIM - HGNC]
GAGE2E:G antigen 2E [Gene - OMIM - HGNC]
GAGE8:G antigen 8 [Gene - OMIM - HGNC]
GPKOW:G-patch domain and KOW motifs [Gene - OMIM - HGNC]
GSPT2:G1 to S phase transition 2 [Gene - OMIM - HGNC]
GATA1:GATA binding protein 1 [Gene - OMIM - HGNC]
GRIPAP1:GRIP1 associated protein 1 [Gene - OMIM - HGNC]
MAGED1:MAGE family member D1 [Gene - OMIM - HGNC]
MAGED4:MAGE family member D4 [Gene - OMIM - HGNC]
MAGED4B:MAGE family member D4B [Gene - OMIM - HGNC]
MAGIX:MAGI family member, X-linked [Gene - HGNC]
OTUD5:OTU deubiquitinase 5 [Gene - OMIM - HGNC]
PAGE1:PAGE family member 1 [Gene - OMIM - HGNC]
PAGE4:PAGE family member 4 [Gene - OMIM - HGNC]
PRAF2:PRA1 domain family member 2 [Gene - OMIM - HGNC]
PIM2:Pim-2 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
RBM3:RNA binding motif protein 3 [Gene - OMIM - HGNC]
SUV39H1:SUV39H1 histone lysine methyltransferase [Gene - OMIM - HGNC]
TBC1D25:TBC1 domain family member 25 [Gene - OMIM - HGNC]
WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
WDR13:WD repeat domain 13 [Gene - OMIM - HGNC]
WDR45:WD repeat domain 45 [Gene - OMIM - HGNC]
XAGE2:X antigen family member 2 [Gene - OMIM - HGNC]
BMP15:bone morphogenetic protein 15 [Gene - OMIM - HGNC]
CACNA1F:calcium voltage-gated channel subunit alpha1 F [Gene - OMIM - HGNC]
CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]
CCDC120:coiled-coil domain containing 120 [Gene - OMIM - HGNC]
CCDC22:coiled-coil domain containing 22 [Gene - OMIM - HGNC]
CCNB3:cyclin B3 [Gene - OMIM - HGNC]
DGKK:diacylglycerol kinase kappa [Gene - OMIM - HGNC]
FOXP3:forkhead box P3 [Gene - OMIM - HGNC]
GLOD5:glyoxalase domain containing 5 [Gene - OMIM - HGNC]
HDAC6:histone deacetylase 6 [Gene - OMIM - HGNC]
MIR502:microRNA 502 [Gene - OMIM - HGNC]
MIR532:microRNA 532 [Gene - OMIM - HGNC]
NUDT10:nudix hydrolase 10 [Gene - OMIM - HGNC]
NUDT11:nudix hydrolase 11 [Gene - OMIM - HGNC]
PQBP1:polyglutamine binding protein 1 [Gene - OMIM - HGNC]
PORCN:porcupine O-acyltransferase [Gene - OMIM - HGNC]
KCND1:potassium voltage-gated channel subfamily D member 1 [Gene - OMIM - HGNC]
PRICKLE3:prickle planar cell polarity protein 3 [Gene - OMIM - HGNC]
PCSK1N:proprotein convertase subtilisin/kexin type 1 inhibitor [Gene - OMIM - HGNC]
PPP1R3F:protein phosphatase 1 regulatory subunit 3F [Gene - OMIM - HGNC]
PLP2:proteolipid protein 2 [Gene - OMIM - HGNC]
SHROOM4:shroom family member 4 [Gene - OMIM - HGNC]
SLC35A2:solute carrier family 35 member A2 [Gene - OMIM - HGNC]
SLC38A5:solute carrier family 38 member 5 [Gene - OMIM - HGNC]
SYP:synaptophysin [Gene - OMIM - HGNC]
TFE3:transcription factor binding to IGHM enhancer 3 [Gene - OMIM - HGNC]
TIMM17B:translocase of inner mitochondrial membrane 17B [Gene - OMIM - HGNC]
USP27X:ubiquitin specific peptidase 27 X-linked [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xp11.23-11.22

Genomic location:

ChrX: 48290189 - 52154997 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4

HGVS:

Links:

dbVar: nssv13645944; dbVar: nsv2777375

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
SCV000585866	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Feb 1, 2016)	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

SCV000585866

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Feb 1, 2016)

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

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, SCV000585866.1

#	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: May 7, 2024

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