GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Sep 16, 2014
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:: RCV000512340.3

Allele description [Variation Report for GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1]

GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1

Genes:

HPGD:15-hydroxyprostaglandin dehydrogenase [Gene - OMIM - HGNC]
ADAM29:ADAM metallopeptidase domain 29 [Gene - OMIM - HGNC]
DDX60L:DExD/H-box 60 like [Gene - OMIM - HGNC]
DDX60:DExD/H-box helicase 60 [Gene - OMIM - HGNC]
FBXO8:F-box protein 8 [Gene - OMIM - HGNC]
NEK1:NIMA related kinase 1 [Gene - OMIM - HGNC]
SH3RF1:SH3 domain containing ring finger 1 [Gene - OMIM - HGNC]
SPOCK3:SPARC (osteonectin), cwcv and kazal like domains proteoglycan 3 [Gene - OMIM - HGNC]
SAP30:Sin3A associated protein 30 [Gene - OMIM - HGNC]
WDR17:WD repeat domain 17 [Gene - OMIM - HGNC]
ANP32C:acidic nuclear phosphoprotein 32 family member C [Gene - OMIM - HGNC]
AADAT:aminoadipate aminotransferase [Gene - OMIM - HGNC]
ASB5:ankyrin repeat and SOCS box containing 5 [Gene - OMIM - HGNC]
ANXA10:annexin A10 [Gene - OMIM - HGNC]
AGA:aspartylglucosaminidase [Gene - OMIM - HGNC]
CBR4:carbonyl reductase 4 [Gene - OMIM - HGNC]
CPE:carboxypeptidase E [Gene - OMIM - HGNC]
CEP44:centrosomal protein 44 [Gene - OMIM - HGNC]
CLCN3:chloride voltage-gated channel 3 [Gene - OMIM - HGNC]
FAM218A:family with sequence similarity 218 member A [Gene - HGNC]
FSTL5:follistatin like 5 [Gene - OMIM - HGNC]
GLRA3:glycine receptor alpha 3 [Gene - OMIM - HGNC]
GPM6A:glycoprotein M6A [Gene - OMIM - HGNC]
HAND2:heart and neural crest derivatives expressed 2 [Gene - OMIM - HGNC]
HMGB2:high mobility group box 2 [Gene - OMIM - HGNC]
HPF1:histone PARylation factor 1 [Gene - OMIM - HGNC]
KLHL2:kelch like family member 2 [Gene - OMIM - HGNC]
MARCHF1:membrane associated ring-CH-type finger 1 [Gene - OMIM - HGNC]
MSMO1:methylsterol monooxygenase 1 [Gene - OMIM - HGNC]
MFAP3L:microfibril associated protein 3 like [Gene - OMIM - HGNC]
NEIL3:nei like DNA glycosylase 3 [Gene - OMIM - HGNC]
NPY1R:neuropeptide Y receptor Y1 [Gene - OMIM - HGNC]
NPY5R:neuropeptide Y receptor Y5 [Gene - OMIM - HGNC]
NAF1:nuclear assembly factor 1 ribonucleoprotein [Gene - OMIM - HGNC]
PALLD:palladin, cytoskeletal associated protein [Gene - OMIM - HGNC]
GALNT7:polypeptide N-acetylgalactosaminyltransferase 7 [Gene - OMIM - HGNC]
GALNTL6:polypeptide N-acetylgalactosaminyltransferase like 6 [Gene - OMIM - HGNC]
SPCS3:signal peptidase complex subunit 3 [Gene - OMIM - HGNC]
SPATA4:spermatogenesis associated 4 [Gene - OMIM - HGNC]
SCRG1:stimulator of chondrogenesis 1 [Gene - OMIM - HGNC]
TLL1:tolloid like 1 [Gene - OMIM - HGNC]
TKTL2:transketolase like 2 [Gene - HGNC]
TMA16:translation machinery associated 16 homolog [Gene - HGNC]
TMEM192:transmembrane protein 192 [Gene - OMIM - HGNC]
TRIM60:tripartite motif containing 60 [Gene - OMIM - HGNC]
TRIM61:tripartite motif containing 61 [Gene - OMIM - HGNC]
LOC101928198:uncharacterized LOC101928198 [Gene]
VEGFC:vascular endothelial growth factor C [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

4q32.2-34.3

Genomic location:

Chr4: 162205710 - 182329883 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 4q32.2-34.3(chr4:162205710-182329883)x1

HGVS:

NC_000004.11:g.(?_162205710)_(182329883_?)del

Links:

dbVar: nssv13638891; dbVar: nsv2769414

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
SCV000584410	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Sep 16, 2014)	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

SCV000584410

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Sep 16, 2014)

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, SCV000584410.1

#	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: Sep 1, 2024

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