GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 16, 2015
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:: RCV000512571.3

Allele description [Variation Report for GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3]

GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3

Genes:

ABCC4:ATP binding cassette subfamily C member 4 (PEL blood group) [Gene - OMIM - HGNC]
ATXN8OS:ATXN8 opposite strand lncRNA [Gene - OMIM - HGNC]
BORA:BORA aurora kinase A activator [Gene - OMIM - HGNC]
CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
COMMD6:COMM domain containing 6 [Gene - OMIM - HGNC]
DZIP1:DAZ interacting zinc finger protein 1 [Gene - OMIM - HGNC]
DIS3:DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease [Gene - OMIM - HGNC]
DNAJC3:DnaJ heat shock protein family (Hsp40) member C3 [Gene - OMIM - HGNC]
FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
GPR180:G protein-coupled receptor 180 [Gene - OMIM - HGNC]
KLF12:KLF transcription factor 12 [Gene - OMIM - HGNC]
KLF5:KLF transcription factor 5 [Gene - OMIM - HGNC]
LMO7:LIM domain 7 [Gene - OMIM - HGNC]
LMO7DN:LMO7 downstream neighbor [Gene - HGNC]
MIR4500HG:MIR4500 host gene [Gene - HGNC]
MYCBP2:MYC binding protein 2 [Gene - OMIM - HGNC]
NDFIP2:Nedd4 family interacting protein 2 [Gene - OMIM - HGNC]
OBI1:ORC ubiquitin ligase 1 [Gene - OMIM - HGNC]
POU4F1:POU class 4 homeobox 1 [Gene - OMIM - HGNC]
RBM26:RNA binding motif protein 26 [Gene - OMIM - HGNC]
SLAIN1:SLAIN motif family member 1 [Gene - OMIM - HGNC]
SLITRK1:SLIT and NTRK like family member 1 [Gene - OMIM - HGNC]
SLITRK5:SLIT and NTRK like family member 5 [Gene - OMIM - HGNC]
SLITRK6:SLIT and NTRK like family member 6 [Gene - OMIM - HGNC]
SOX21:SRY-box transcription factor 21 [Gene - OMIM - HGNC]
TBC1D4:TBC1 domain family member 4 [Gene - OMIM - HGNC]
TGDS:TDP-glucose 4,6-dehydratase [Gene - OMIM - HGNC]
UGGT2:UDP-glucose glycoprotein glucosyltransferase 2 [Gene - OMIM - HGNC]
ACOD1:aconitate decarboxylase 1 [Gene - OMIM - HGNC]
CLDN10:claudin 10 [Gene - OMIM - HGNC]
DACH1:dachshund family transcription factor 1 [Gene - OMIM - HGNC]
DIAPH3:diaphanous related formin 3 [Gene - OMIM - HGNC]
DCT:dopachrome tautomerase [Gene - OMIM - HGNC]
EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
GPC5:glypican 5 [Gene - OMIM - HGNC]
GPC6:glypican 6 [Gene - OMIM - HGNC]
KLHL1:kelch like family member 1 [Gene - OMIM - HGNC]
LINC00402:long intergenic non-protein coding RNA 402 [Gene - HGNC]
LINC00558:long intergenic non-protein coding RNA 558 [Gene - HGNC]
MIR17HG:miR-17-92a-1 cluster host gene [Gene - OMIM - HGNC]
MIR17:microRNA 17 [Gene - OMIM - HGNC]
MIR18A:microRNA 18a [Gene - OMIM - HGNC]
MIR19A:microRNA 19a [Gene - OMIM - HGNC]
MIR19B1:microRNA 19b-1 [Gene - OMIM - HGNC]
MIR20A:microRNA 20a [Gene - OMIM - HGNC]
MIR92A1:microRNA 92a-1 [Gene - OMIM - HGNC]
MZT1:mitotic spindle organizing protein 1 [Gene - OMIM - HGNC]
KCTD12:potassium channel tetramerization domain containing 12 [Gene - OMIM - HGNC]
PIBF1:progesterone immunomodulatory binding factor 1 [Gene - OMIM - HGNC]
PRR20A:proline rich 20A [Gene - HGNC]
PRR20B:proline rich 20B [Gene - HGNC]
PRR20C:proline rich 20C [Gene - HGNC]
PRR20D:proline rich 20D [Gene - HGNC]
PRR20E:proline rich 20E [Gene - HGNC]
PCDH17:protocadherin 17 [Gene - OMIM - HGNC]
PCDH20:protocadherin 20 [Gene - OMIM - HGNC]
PCDH9:protocadherin 9 [Gene - OMIM - HGNC]
SCEL:sciellin [Gene - OMIM - HGNC]
SPRY2:sprouty RTK signaling antagonist 2 [Gene - OMIM - HGNC]
TDRD3:tudor domain containing 3 [Gene - OMIM - HGNC]
UCHL3:ubiquitin C-terminal hydrolase L3 [Gene - OMIM - HGNC]
LOC100288208:uncharacterized LOC100288208 [Gene]

Variant type:

copy number gain

Cytogenetic location:

13q14.3-32.1

Genomic location:

Chr13: 53932358 - 96586363 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3

HGVS:

Links:

dbVar: nssv13641413; dbVar: nsv2779196

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
SCV000586198	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Mar 16, 2015)	unknown	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

SCV000586198

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Mar 16, 2015)

unknown

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, SCV000586198.1

#	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	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Sep 1, 2024

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