GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1 AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 5, 2018
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:: RCV000848216.2

Allele description [Variation Report for GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1]

GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1

Genes:

HIBCH:3-hydroxyisobutyryl-CoA hydrolase [Gene - OMIM - HGNC]
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]
DNAJC10:DnaJ heat shock protein family (Hsp40) member C10 [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]
GULP1:GULP PTB domain containing engulfment adaptor 1 [Gene - OMIM - HGNC]
ITPRID2:ITPR interacting domain containing 2 [Gene - OMIM - HGNC]
LRP2:LDL receptor related protein 2 [Gene - OMIM - HGNC]
NCKAP1:NCK associated protein 1 [Gene - OMIM - HGNC]
NFE2L2:NFE2 like bZIP transcription factor 2 [Gene - OMIM - HGNC]
NAB1:NGFI-A binding protein 1 [Gene - OMIM - HGNC]
OSGEPL1:O-sialoglycoprotein endopeptidase like 1 [Gene - OMIM - HGNC]
ORMDL1:ORMDL sphingolipid biosynthesis regulator 1 [Gene - OMIM - HGNC]
OLA1:Obg like ATPase 1 [Gene - OMIM - HGNC]
PMS1:PMS1 homolog 1, mismatch repair system component [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]
WDR75:WD repeat domain 75 [Gene - OMIM - HGNC]
ATF2:activating transcription factor 2 [Gene - OMIM - HGNC]
AGPS:alkylglycerone phosphate synthase [Gene - OMIM - HGNC]
ANKAR:ankyrin and armadillo repeat containing [Gene - OMIM - HGNC]
ASNSD1:asparagine synthetase domain containing 1 [Gene - OMIM - HGNC]
B3GALT1:beta-1,3-galactosyltransferase 1 [Gene - OMIM - HGNC]
CALCRL:calcitonin receptor like receptor [Gene - OMIM - HGNC]
CAVIN2:caveolae associated protein 2 [Gene - OMIM - HGNC]
CDCA7:cell division cycle associated 7 [Gene - OMIM - HGNC]
CERKL:ceramide kinase like [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]
C2orf88:chromosome 2 open reading frame 88 [Gene - OMIM - HGNC]
CFAP210:cilia and flagella associated protein 210 [Gene - HGNC]
CCDC141:coiled-coil domain containing 141 [Gene - OMIM - HGNC]
COL3A1:collagen type III alpha 1 chain [Gene - OMIM - HGNC]
COL5A2:collagen type V alpha 2 chain [Gene - OMIM - HGNC]
CIR1:corepressor interacting with RBPJ, CIR1 [Gene - OMIM - HGNC]
CYBRD1:cytochrome b reductase 1 [Gene - OMIM - HGNC]
DHRS9:dehydrogenase/reductase 9 [Gene - OMIM - HGNC]
DIRC1:disrupted in renal carcinoma 1 [Gene - OMIM - HGNC]
DLX1:distal-less homeobox 1 [Gene - OMIM - HGNC]
DLX2:distal-less homeobox 2 [Gene - OMIM - HGNC]
DUSP19:dual specificity phosphatase 19 [Gene - OMIM - HGNC]
DYNC1I2:dynein cytoplasmic 1 intermediate chain 2 [Gene - OMIM - HGNC]
EVX2:even-skipped homeobox 2 [Gene - OMIM - HGNC]
FAM171B:family with sequence similarity 171 member B [Gene - OMIM - HGNC]
FSIP2:fibrous sheath interacting protein 2 [Gene - OMIM - HGNC]
FRZB:frizzled related protein [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]
GLS:glutaminase [Gene - OMIM - HGNC]
GORASP2:golgi reassembly stacking protein 2 [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]
INPP1:inositol polyphosphate-1-phosphatase [Gene - OMIM - HGNC]
ITGA4:integrin subunit alpha 4 [Gene - OMIM - HGNC]
ITGA6:integrin subunit alpha 6 [Gene - OMIM - HGNC]
ITGAV:integrin subunit alpha V [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]
MFSD6:major facilitator superfamily domain containing 6 [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, tRNA N3-cytidine [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]
MYO1B:myosin IB [Gene - OMIM - HGNC]
MYO3B:myosin IIIB [Gene - OMIM - HGNC]
MSTN:myostatin [Gene - OMIM - HGNC]
NEUROD1:neuronal differentiation 1 [Gene - OMIM - HGNC]
NOSTRIN:nitric oxide synthase trafficking [Gene - OMIM - HGNC]
NEMP2:nuclear envelope integral membrane protein 2 [Gene - OMIM - HGNC]
NABP1:nucleic acid binding protein 1 [Gene - OMIM - HGNC]
NUP35:nucleoporin 35 [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]
PDE1A:phosphodiesterase 1A [Gene - OMIM - HGNC]
PLEKHA3:pleckstrin homology domain containing A3 [Gene - OMIM - HGNC]
PRKRA:protein activator of interferon induced protein kinase EIF2AK2 [Gene - OMIM - HGNC]
PPP1R1C:protein phosphatase 1 regulatory inhibitor subunit 1C [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]
STAT1:signal transducer and activator of transcription 1 [Gene - OMIM - HGNC]
STAT4:signal transducer and activator of transcription 4 [Gene - OMIM - HGNC]
SSB:small RNA binding exonuclease protection factor La [Gene - OMIM - HGNC]
SCN7A:sodium voltage-gated channel alpha subunit 7 [Gene - OMIM - HGNC]
SLC25A12:solute carrier family 25 member 12 [Gene - OMIM - HGNC]
SLC40A1:solute carrier family 40 member 1 [Gene - OMIM - HGNC]
TFPI:tissue factor pathway inhibitor [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]
ZC3H15:zinc finger CCCH-type containing 15 [Gene - OMIM - HGNC]
ZSWIM2:zinc finger SWIM-type containing 2 [Gene - HGNC]
ZNF385B:zinc finger protein 385B [Gene - OMIM - HGNC]
ZNF804A:zinc finger protein 804A [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q24.3-32.3

Genomic location:

Chr2: 167329586 - 192756373 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 2q24.3-32.3(chr2:167329586-192756373)x1

HGVS:

NC_000002.11:g.(?_167329586)_(192756373_?)del

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: CN517202

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000990349	Bionano Laboratories	no assertion criteria provided	Pathogenic (Jul 5, 2018)	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000990349

Bionano Laboratories

no assertion criteria provided

Pathogenic
(Jul 5, 2018)

unknown

clinical testing

Help

Summary from all submissions

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

Details of each submission

From Bionano Laboratories, SCV000990349.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	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	unknown	unknown	not provided	Buccal	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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