GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 19, 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:: RCV000510425.3

Allele description [Variation Report for GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3]

GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3

Genes:

HACD4:3-hydroxyacyl-CoA dehydratase 4 [Gene - OMIM - HGNC]
ADAMTSL1:ADAMTS like 1 [Gene - OMIM - HGNC]
C9orf72:C9orf72-SMCR8 complex subunit [Gene - OMIM - HGNC]
CDKN2B-AS1:CDKN2B antisense RNA 1 [Gene - OMIM - HGNC]
DENND4C:DENN domain containing 4C [Gene - HGNC]
DMRTA1:DMRT like family A1 [Gene - OMIM - HGNC]
ELAVL2:ELAV like RNA binding protein 2 [Gene - OMIM - HGNC]
FREM1:FRAS1 related extracellular matrix 1 [Gene - OMIM - HGNC]
HAUS6:HAUS augmin like complex subunit 6 [Gene - OMIM - HGNC]
IZUMO3:IZUMO family member 3 [Gene - OMIM - HGNC]
MLLT3:MLLT3 super elongation complex subunit [Gene - OMIM - HGNC]
MOB3B:MOB kinase activator 3B [Gene - OMIM - HGNC]
PSIP1:PC4 and SRSF1 interacting protein 1 [Gene - OMIM - HGNC]
RANBP6:RAN binding protein 6 [Gene - HGNC]
RRAGA:Ras related GTP binding A [Gene - OMIM - HGNC]
SH3GL2:SH3 domain containing GRB2 like 2, endophilin A1 [Gene - OMIM - HGNC]
TEK:TEK receptor tyrosine kinase [Gene - OMIM - HGNC]
TPD52L3:TPD52 like 3 [Gene - OMIM - HGNC]
ACER2:alkaline ceramidase 2 [Gene - OMIM - HGNC]
BNC2:basonuclin zinc finger protein 2 [Gene - OMIM - HGNC]
BRD10:bromodomain containing 10 [Gene - HGNC]
CAAP1:caspase activity and apoptosis inhibitor 1 [Gene - HGNC]
CNTLN:centlein [Gene - OMIM - HGNC]
CER1:cerberus 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
CCDC171:coiled-coil domain containing 171 [Gene - HGNC]
CDKN2A:cyclin dependent kinase inhibitor 2A [Gene - OMIM - HGNC]
CDKN2B:cyclin dependent kinase inhibitor 2B [Gene - OMIM - HGNC]
DMAC1:distal membrane arm assembly component 1 [Gene - OMIM - HGNC]
EQTN:equatorin [Gene - OMIM - HGNC]
FOCAD:focadhesin [Gene - OMIM - HGNC]
GLDC:glycine decarboxylase [Gene - OMIM - HGNC]
IFNA10:interferon alpha 10 [Gene - OMIM - HGNC]
IFNA13:interferon alpha 13 [Gene - OMIM - HGNC]
IFNA14:interferon alpha 14 [Gene - OMIM - HGNC]
IFNA16:interferon alpha 16 [Gene - OMIM - HGNC]
IFNA17:interferon alpha 17 [Gene - OMIM - HGNC]
IFNA1:interferon alpha 1 [Gene - OMIM - HGNC]
IFNA21:interferon alpha 21 [Gene - OMIM - HGNC]
IFNA2:interferon alpha 2 [Gene - OMIM - HGNC]
IFNA4:interferon alpha 4 [Gene - OMIM - HGNC]
IFNA5:interferon alpha 5 [Gene - OMIM - HGNC]
IFNA6:interferon alpha 6 [Gene - OMIM - HGNC]
IFNA7:interferon alpha 7 [Gene - OMIM - HGNC]
IFNA8:interferon alpha 8 [Gene - OMIM - HGNC]
IFNB1:interferon beta 1 [Gene - OMIM - HGNC]
IFNE:interferon epsilon [Gene - OMIM - HGNC]
IFNW1:interferon omega 1 [Gene - OMIM - HGNC]
IL33:interleukin 33 [Gene - OMIM - HGNC]
IFT74:intraflagellar transport 74 [Gene - OMIM - HGNC]
KLHL9:kelch like family member 9 [Gene - OMIM - HGNC]
LURAP1L:leucine rich adaptor protein 1 like [Gene - OMIM - HGNC]
LINGO2:leucine rich repeat and Ig domain containing 2 [Gene - OMIM - HGNC]
LRRC19:leucine rich repeat containing 19 [Gene - OMIM - HGNC]
KDM4C:lysine demethylase 4C [Gene - OMIM - HGNC]
MLANA:melan-A [Gene - OMIM - HGNC]
MTAP:methylthioadenosine phosphorylase [Gene - OMIM - HGNC]
MIR31:microRNA 31 [Gene - OMIM - HGNC]
MPDZ:multiple PDZ domain crumbs cell polarity complex component [Gene - OMIM - HGNC]
NFIB:nuclear factor I B [Gene - OMIM - HGNC]
PLIN2:perilipin 2 [Gene - OMIM - HGNC]
PLAA:phospholipase A2 activating protein [Gene - OMIM - HGNC]
PTPRD:protein tyrosine phosphatase receptor type D [Gene - OMIM - HGNC]
RPS6:ribosomal protein S6 [Gene - OMIM - HGNC]
SNAPC3:small nuclear RNA activating complex polypeptide 3 [Gene - OMIM - HGNC]
SLC24A2:solute carrier family 24 member 2 [Gene - OMIM - HGNC]
SAXO1:stabilizer of axonemal microtubules 1 [Gene - OMIM - HGNC]
TTC39B:tetratricopeptide repeat domain 39B [Gene - OMIM - HGNC]
TUSC1:tumor suppressor candidate 1 [Gene - OMIM - HGNC]
TYRP1:tyrosinase related protein 1 [Gene - OMIM - HGNC]
UHRF2:ubiquitin like with PHD and ring finger domains 2 [Gene - OMIM - HGNC]
ZDHHC21:zinc finger DHHC-type palmitoyltransferase 21 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

9p24.1-21.1

Genomic location:

Chr9: 5900425 - 30008330 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 9p24.1-21.1(chr9:5900425-30008330)x3

HGVS:

Links:

dbVar: nssv13644051; dbVar: nsv2771700

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
SCV000584859	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Apr 19, 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

SCV000584859

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Apr 19, 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
not provided	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, SCV000584859.1

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

Last Updated: Sep 1, 2024

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