GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3 AND See cases

Germline classification:: Likely 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:: RCV000510739.3

Allele description [Variation Report for GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3]

GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3

Genes:

HTR2C:5-hydroxytryptamine receptor 2C [Gene - OMIM - HGNC]
DANT2:DXZ4 associated non-coding transcript 2, distal [Gene - OMIM - HGNC]
LHFPL1:LHFPL tetraspan subfamily member 1 [Gene - OMIM - HGNC]
RBMXL3:RBMX like 3 [Gene - HGNC]
WDR44:WD repeat domain 44 [Gene - OMIM - HGNC]
AMOT:angiomotin [Gene - OMIM - HGNC]
AGTR2:angiotensin II receptor type 2 [Gene - OMIM - HGNC]
CT83:cancer/testis antigen 83 [Gene - OMIM - HGNC]
DOCK11:dedicator of cytokinesis 11 [Gene - OMIM - HGNC]
IL13RA1:interleukin 13 receptor subunit alpha 1 [Gene - OMIM - HGNC]
IL13RA2:interleukin 13 receptor subunit alpha 2 [Gene - OMIM - HGNC]
KLHL13:kelch like family member 13 [Gene - OMIM - HGNC]
LRCH2:leucine rich repeats and calponin homology domain containing 2 [Gene - HGNC]
LUZP4:leucine zipper protein 4 [Gene - OMIM - HGNC]
MIR448:microRNA 448 [Gene - OMIM - HGNC]
PLS3:plastin 3 [Gene - OMIM - HGNC]
RTL4:retrotransposon Gag like 4 [Gene - HGNC]
SLC6A14:solute carrier family 6 member 14 [Gene - OMIM - HGNC]
TRPC5:transient receptor potential cation channel subfamily C member 5 [Gene - OMIM - HGNC]
ZCCHC12:zinc finger CCHC-type containing 12 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

Xq23-24

Genomic location:

ChrX: 111149921 - 117993284 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3

HGVS:

Links:

dbVar: nssv13640675; dbVar: nsv2772317

Observations:

Condition(s)

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

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NACHT, LRR and PYD domains-containing protein 6 [Rattus norvegicus]
NACHT, LRR and PYD domains-containing protein 6 [Rattus norvegicus]
gi|1983576062|ref|NP_599202.4|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000584968	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely pathogenic (Feb 1, 2016)	maternal	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

SCV000584968

ISCA site 1

See additional submitters

no assertion criteria provided

Likely pathogenic
(Feb 1, 2016)

maternal

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	maternal	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, SCV000584968.1

#	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	maternal	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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