GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1 AND 2q24 microdeletion syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV001263223.1

Allele description [Variation Report for GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1]

GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1

Genes:

ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]
ATP5MC3:ATP synthase membrane subunit c locus 3 [Gene - OMIM - HGNC]
BBS5:Bardet-Biedl syndrome 5 [Gene - OMIM - HGNC]
CWC22:CWC22 spliceosome associated protein homolog [Gene - OMIM - HGNC]
DCAF17:DDB1 and CUL4 associated factor 17 [Gene - OMIM - HGNC]
FASTKD1:FAST kinase domains 1 [Gene - OMIM - HGNC]
FKBP7:FKBP prolyl isomerase 7 [Gene - OMIM - HGNC]
GPR155:G protein-coupled receptor 155 [Gene - HGNC]
LRP2:LDL receptor related protein 2 [Gene - OMIM - HGNC]
NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]
OLA1:Obg like ATPase 1 [Gene - OMIM - HGNC]
RBM45:RNA binding motif protein 45 [Gene - OMIM - HGNC]
RAPGEF4:Rap guanine nucleotide exchange factor 4 [Gene - OMIM - HGNC]
SESTD1:SEC14 and spectrin domain containing 1 [Gene - HGNC]
SPC25:SPC25 component of NDC80 kinetochore complex [Gene - OMIM - HGNC]
SP3:Sp3 transcription factor [Gene - OMIM - HGNC]
SP5:Sp5 transcription factor [Gene - OMIM - HGNC]
SP9:Sp9 transcription factor [Gene - HGNC]
WIPF1:WAS/WASL interacting protein family member 1 [Gene - OMIM - HGNC]
ATF2:activating transcription factor 2 [Gene - OMIM - HGNC]
AGPS:alkylglycerone phosphate synthase [Gene - OMIM - HGNC]
B3GALT1:beta-1,3-galactosyltransferase 1 [Gene - OMIM - HGNC]
CDCA7:cell division cycle associated 7 [Gene - OMIM - HGNC]
CERS6:ceramide synthase 6 [Gene - OMIM - HGNC]
CHN1:chimerin 1 [Gene - OMIM - HGNC]
CHRNA1:cholinergic receptor nicotinic alpha 1 subunit [Gene - OMIM - HGNC]
CFAP210:cilia and flagella associated protein 210 [Gene - HGNC]
CCDC141:coiled-coil domain containing 141 [Gene - OMIM - HGNC]
COBLL1:cordon-bleu WH2 repeat protein like 1 [Gene - OMIM - HGNC]
CIR1:corepressor interacting with RBPJ, CIR1 [Gene - OMIM - HGNC]
CSRNP3:cysteine and serine rich nuclear protein 3 [Gene - HGNC]
CYBRD1:cytochrome b reductase 1 [Gene - OMIM - HGNC]
DHRS9:dehydrogenase/reductase 9 [Gene - OMIM - HGNC]
DLX1:distal-less homeobox 1 [Gene - OMIM - HGNC]
DLX2:distal-less homeobox 2 [Gene - OMIM - HGNC]
DYNC1I2:dynein cytoplasmic 1 intermediate chain 2 [Gene - OMIM - HGNC]
EVX2:even-skipped homeobox 2 [Gene - OMIM - HGNC]
FAP:fibroblast activation protein alpha [Gene - OMIM - HGNC]
FIGN:fidgetin, microtubule severing factor [Gene - OMIM - HGNC]
G6PC2:glucose-6-phosphatase catalytic subunit 2 [Gene - OMIM - HGNC]
GAD1:glutamate decarboxylase 1 [Gene - OMIM - HGNC]
ERICH2:glutamate rich 2 [Gene - HGNC]
GORASP2:golgi reassembly stacking protein 2 [Gene - OMIM - HGNC]
GCA:grancalcin [Gene - OMIM - HGNC]
GRB14:growth factor receptor bound protein 14 [Gene - OMIM - HGNC]
HNRNPA3:heterogeneous nuclear ribonucleoprotein A3 [Gene - OMIM - HGNC]
HAT1:histone acetyltransferase 1 [Gene - OMIM - HGNC]
HOXD10:homeobox D10 [Gene - OMIM - HGNC]
HOXD11:homeobox D11 [Gene - OMIM - HGNC]
HOXD12:homeobox D12 [Gene - OMIM - HGNC]
HOXD13:homeobox D13 [Gene - OMIM - HGNC]
HOXD1:homeobox D1 [Gene - OMIM - HGNC]
HOXD3:homeobox D3 [Gene - OMIM - HGNC]
HOXD4:homeobox D4 [Gene - OMIM - HGNC]
HOXD8:homeobox D8 [Gene - OMIM - HGNC]
HOXD9:homeobox D9 [Gene - OMIM - HGNC]
ITGA6:integrin subunit alpha 6 [Gene - OMIM - HGNC]
IFIH1:interferon induced with helicase C domain 1 [Gene - OMIM - HGNC]
IFT70A:intraflagellar transport 70A [Gene - HGNC]
IFT70B:intraflagellar transport 70B [Gene - HGNC]
KLHL23:kelch like family member 23 [Gene - HGNC]
KLHL41:kelch like family member 41 [Gene - OMIM - HGNC]
LNPK:lunapark, ER junction formation factor [Gene - OMIM - HGNC]
MTX2:metaxin 2 [Gene - OMIM - HGNC]
METAP1D:methionyl aminopeptidase type 1D, mitochondrial [Gene - OMIM - HGNC]
METTL5:methyltransferase 5, N6-adenosine [Gene - OMIM - HGNC]
METTL8:methyltransferase 8, methylcytidine [Gene - OMIM - HGNC]
MIR10B:microRNA 10b [Gene - OMIM - HGNC]
MIR1258:microRNA 1258 [Gene - OMIM - HGNC]
MAP3K20:mitogen-activated protein kinase kinase kinase 20 [Gene - OMIM - HGNC]
MYO3B:myosin IIIB [Gene - OMIM - HGNC]
NOSTRIN:nitric oxide synthase trafficking [Gene - OMIM - HGNC]
OSBPL6:oxysterol binding protein like 6 [Gene - OMIM - HGNC]
PJVK:pejvakin [Gene - OMIM - HGNC]
PPIG:peptidylprolyl isomerase G [Gene - OMIM - HGNC]
PHOSPHO2:phosphatase, orphan 2 [Gene - HGNC]
PDE11A:phosphodiesterase 11A [Gene - OMIM - HGNC]
PLEKHA3:pleckstrin homology domain containing A3 [Gene - OMIM - HGNC]
GALNT3:polypeptide N-acetylgalactosaminyltransferase 3 [Gene - OMIM - HGNC]
KCNH7:potassium voltage-gated channel subfamily H member 7 [Gene - OMIM - HGNC]
PRKRA:protein activator of interferon induced protein kinase EIF2AK2 [Gene - OMIM - HGNC]
PDK1:pyruvate dehydrogenase kinase 1 [Gene - OMIM - HGNC]
SCRN3:secernin 3 [Gene - OMIM - HGNC]
STK39:serine/threonine kinase 39 [Gene - OMIM - HGNC]
SSB:small RNA binding exonuclease protection factor La [Gene - OMIM - HGNC]
SCN1A:sodium voltage-gated channel alpha subunit 1 [Gene - OMIM - HGNC]
SCN2A:sodium voltage-gated channel alpha subunit 2 [Gene - OMIM - HGNC]
SCN3A:sodium voltage-gated channel alpha subunit 3 [Gene - OMIM - HGNC]
SCN7A:sodium voltage-gated channel alpha subunit 7 [Gene - OMIM - HGNC]
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
SLC25A12:solute carrier family 25 member 12 [Gene - OMIM - HGNC]
SLC38A11:solute carrier family 38 member 11 [Gene - OMIM - HGNC]
TTC21B:tetratricopeptide repeat domain 21B [Gene - OMIM - HGNC]
TTN:titin [Gene - OMIM - HGNC]
TLK1:tousled like kinase 1 [Gene - OMIM - HGNC]
UBE2E3:ubiquitin conjugating enzyme E2 E3 [Gene - OMIM - HGNC]
UBR3:ubiquitin protein ligase E3 component n-recognin 3 [Gene - OMIM - HGNC]
XIRP2:xin actin binding repeat containing 2 [Gene - OMIM - HGNC]
ZNF385B:zinc finger protein 385B [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q24.2-31.3

Genomic location:

Chr2: 163078055 - 182119617 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q24.2-31.3(chr2:163078055-182119617)x1

HGVS:

NC_000002.11:g.(?_163078055)_(182119617_?)del

Observations:

Condition(s)

Name:: 2q24 microdeletion syndrome
Synonyms:: Chromosome 2, monosomy 2q24; Monosomy 2q24; Deletion 2q24
Identifiers:: MONDO: MONDO:0015566; MedGen: C2931816

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Homo sapiens annexin 14 (ANX14) mRNA, complete cds
Homo sapiens annexin 14 (ANX14) mRNA, complete cds
gi|6274496|gb|AF196478.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001437588	Department of Medical Genetics, Oslo University Hospital	no assertion criteria provided	Pathogenic	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001437588

Department of Medical Genetics, Oslo University Hospital

no assertion criteria provided

Pathogenic

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Department of Medical Genetics, Oslo University Hospital, SCV001437588.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 26, 2023

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