GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3 AND not provided

Germline classification:: not provided (1 submission)
Review status:: no classification 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:: RCV001249273.1

Allele description [Variation Report for GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3]

GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3

Genes:

PFKFB2:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2 [Gene - OMIM - HGNC]
ARL8A:ADP ribosylation factor like GTPase 8A [Gene - OMIM - HGNC]
ATP6V1G3:ATPase H+ transporting V1 subunit G3 [Gene - OMIM - HGNC]
ATP2B4:ATPase plasma membrane Ca2+ transporting 4 [Gene - OMIM - HGNC]
BTG2:BTG anti-proliferation factor 2 [Gene - OMIM - HGNC]
CD34:CD34 molecule [Gene - OMIM - HGNC]
CD46:CD46 molecule [Gene - OMIM - HGNC]
CD55:CD55 molecule (Cromer blood group) [Gene - OMIM - HGNC]
DDX59:DEAD-box helicase 59 [Gene - OMIM - HGNC]
DENND1B:DENN domain containing 1B [Gene - OMIM - HGNC]
ELF3:E74 like ETS transcription factor 3 [Gene - OMIM - HGNC]
ELK4:ETS transcription factor ELK4 [Gene - OMIM - HGNC]
FCAMR:Fc alpha and mu receptor [Gene - OMIM - HGNC]
FCMR:Fc mu receptor [Gene - OMIM - HGNC]
GPR25:G protein-coupled receptor 25 [Gene - OMIM - HGNC]
GPR37L1:G protein-coupled receptor 37 like 1 [Gene - OMIM - HGNC]
G0S2:G0/G1 switch 2 [Gene - OMIM - HGNC]
IKBKE-AS1:IKBKE antisense RNA 1 [Gene - HGNC]
KISS1:KiSS-1 metastasis suppressor [Gene - OMIM - HGNC]
LEMD1:LEM domain containing 1 [Gene - OMIM - HGNC]
LHX9:LIM homeobox 9 [Gene - OMIM - HGNC]
MAPKAPK2:MAPK activated protein kinase 2 [Gene - OMIM - HGNC]
MDM4:MDM4 regulator of p53 [Gene - OMIM - HGNC]
MIR205HG:MIR205 host gene [Gene - HGNC]
MIR29B2CHG:MIR29B2 and MIR29C host gene [Gene - HGNC]
NEK7:NIMA related kinase 7 [Gene - OMIM - HGNC]
NUAK2:NUAK family kinase 2 [Gene - OMIM - HGNC]
PPFIA4:PTPRF interacting protein alpha 4 [Gene - OMIM - HGNC]
RABIF:RAB interacting factor [Gene - OMIM - HGNC]
RAB29:RAB29, member RAS oncogene family [Gene - OMIM - HGNC]
RBBP5:RB binding protein 5, histone lysine methyltransferase complex subunit [Gene - OMIM - HGNC]
RASSF5:Ras association domain family member 5 [Gene - OMIM - HGNC]
SERTAD4:SERTA domain containing 4 [Gene - HGNC]
SRGAP2:SLIT-ROBO Rho GTPase activating protein 2 [Gene - OMIM - HGNC]
SOX13:SRY-box transcription factor 13 [Gene - OMIM - HGNC]
TRAF3IP3:TRAF3 interacting protein 3 [Gene - OMIM - HGNC]
UTP25:UTP25 small subunit processome component [Gene - OMIM - HGNC]
YOD1:YOD1 deubiquitinase [Gene - OMIM - HGNC]
ASCL5:achaete-scute family bHLH transcription factor 5 [Gene - OMIM - HGNC]
ADORA1:adenosine A1 receptor [Gene - OMIM - HGNC]
ADIPOR1:adiponectin receptor 1 [Gene - OMIM - HGNC]
AVPR1B:arginine vasopressin receptor 1B [Gene - OMIM - HGNC]
RNPEP:arginyl aminopeptidase [Gene - OMIM - HGNC]
ASPM:assembly factor for spindle microtubules [Gene - OMIM - HGNC]
CACNA1S:calcium voltage-gated channel subunit alpha1 S [Gene - OMIM - HGNC]
CAMK1G:calcium/calmodulin dependent protein kinase IG [Gene - OMIM - HGNC]
CAMSAP2:calmodulin regulated spectrin associated protein family member 2 [Gene - OMIM - HGNC]
CTSE:cathepsin E [Gene - OMIM - HGNC]
CHIT1:chitinase 1 [Gene - OMIM - HGNC]
CHI3L1:chitinase 3 like 1 [Gene - OMIM - HGNC]
C1orf116:chromosome 1 open reading frame 116 [Gene - OMIM - HGNC]
C1orf53:chromosome 1 open reading frame 53 [Gene - HGNC]
C1orf74:chromosome 1 open reading frame 74 [Gene - HGNC]
F13B:coagulation factor XIII B chain [Gene - OMIM - HGNC]
CR1:complement C3b/C4b receptor 1 (Knops blood group) [Gene - OMIM - HGNC]
CR1L:complement C3b/C4b receptor 1 like [Gene - OMIM - HGNC]
CR2:complement C3d receptor 2 [Gene - OMIM - HGNC]
C4BPA:complement component 4 binding protein alpha [Gene - OMIM - HGNC]
C4BPB:complement component 4 binding protein beta [Gene - OMIM - HGNC]
CFHR1:complement factor H related 1 [Gene - OMIM - HGNC]
CFHR2:complement factor H related 2 [Gene - OMIM - HGNC]
CFHR3:complement factor H related 3 [Gene - OMIM - HGNC]
CFHR4:complement factor H related 4 [Gene - OMIM - HGNC]
CFHR5:complement factor H related 5 [Gene - OMIM - HGNC]
CFH:complement factor H [Gene - OMIM - HGNC]
CNTN2:contactin 2 [Gene - OMIM - HGNC]
CRB1:crumbs cell polarity complex component 1 [Gene - OMIM - HGNC]
CDK18:cyclin dependent kinase 18 [Gene - OMIM - HGNC]
CSRP1:cysteine and glycine rich protein 1 [Gene - OMIM - HGNC]
CYB5R1:cytochrome b5 reductase 1 [Gene - OMIM - HGNC]
DSTYK:dual serine/threonine and tyrosine protein kinase [Gene - OMIM - HGNC]
DYRK3:dual specificity tyrosine phosphorylation regulated kinase 3 [Gene - OMIM - HGNC]
ETNK2:ethanolamine kinase 2 [Gene - OMIM - HGNC]
EIF2D:eukaryotic translation initiation factor 2D [Gene - OMIM - HGNC]
FAM72A:family with sequence similarity 72 member A [Gene - OMIM - HGNC]
FMOD:fibromodulin [Gene - OMIM - HGNC]
GOLT1A:golgi transport 1A [Gene - OMIM - HGNC]
HHAT:hedgehog acyltransferase [Gene - OMIM - HGNC]
HSD11B1:hydroxysteroid 11-beta dehydrogenase 1 [Gene - OMIM - HGNC]
IGFN1:immunoglobulin like and fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
IPO9:importin 9 [Gene - OMIM - HGNC]
IKBKE:inhibitor of nuclear factor kappa B kinase subunit epsilon [Gene - OMIM - HGNC]
INAVA:innate immunity activator [Gene - OMIM - HGNC]
IRF6:interferon regulatory factor 6 [Gene - OMIM - HGNC]
IL10:interleukin 10 [Gene - OMIM - HGNC]
IL19:interleukin 19 [Gene - OMIM - HGNC]
IL20:interleukin 20 [Gene - OMIM - HGNC]
IL24:interleukin 24 [Gene - OMIM - HGNC]
KLHDC8A:kelch domain containing 8A [Gene - OMIM - HGNC]
KLHL12:kelch like family member 12 [Gene - OMIM - HGNC]
KIF14:kinesin family member 14 [Gene - OMIM - HGNC]
KIF21B:kinesin family member 21B [Gene - OMIM - HGNC]
LAD1:ladinin 1 [Gene - OMIM - HGNC]
LAMB3:laminin subunit beta 3 [Gene - OMIM - HGNC]
LMOD1:leiomodin 1 [Gene - OMIM - HGNC]
LGR6:leucine rich repeat containing G protein-coupled receptor 6 [Gene - OMIM - HGNC]
LRRN2:leucine rich repeat neuronal 2 [Gene - OMIM - HGNC]
LAX1:lymphocyte transmembrane adaptor 1 [Gene - OMIM - HGNC]
KDM5B:lysine demethylase 5B [Gene - OMIM - HGNC]
MFSD4A:major facilitator superfamily domain containing 4A [Gene - OMIM - HGNC]
MIR181A1:microRNA 181a-1 [Gene - OMIM - HGNC]
MIR181B1:microRNA 181b-1 [Gene - OMIM - HGNC]
MIR205:microRNA 205 [Gene - OMIM - HGNC]
MIR29C:microRNA 29c [Gene - OMIM - HGNC]
MYOG:myogenin [Gene - OMIM - HGNC]
MYBPH:myosin binding protein H [Gene - OMIM - HGNC]
NFASC:neurofascin [Gene - OMIM - HGNC]
NAV1:neuron navigator 1 [Gene - OMIM - HGNC]
NUCKS1:nuclear casein kinase and cyclin dependent kinase substrate 1 [Gene - OMIM - HGNC]
NR5A2:nuclear receptor subfamily 5 group A member 2 [Gene - OMIM - HGNC]
OPTC:opticin [Gene - OMIM - HGNC]
PM20D1:peptidase M20 domain containing 1 [Gene - OMIM - HGNC]
PIK3C2B:phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 beta [Gene - OMIM - HGNC]
PKP1:plakophilin 1 [Gene - OMIM - HGNC]
PLEKHA6:pleckstrin homology domain containing A6 [Gene - OMIM - HGNC]
PHLDA3:pleckstrin homology like domain family A member 3 [Gene - OMIM - HGNC]
PLXNA2:plexin A2 [Gene - OMIM - HGNC]
PIGR:polymeric immunoglobulin receptor [Gene - OMIM - HGNC]
KCNT2:potassium sodium-activated channel subfamily T member 2 [Gene - OMIM - HGNC]
KCNH1:potassium voltage-gated channel subfamily H member 1 [Gene - OMIM - HGNC]
PRELP:proline and arginine rich end leucine rich repeat protein [Gene - OMIM - HGNC]
PCAT6:prostate cancer associated transcript 6 [Gene - HGNC]
PPP1R12B:protein phosphatase 1 regulatory subunit 12B [Gene - OMIM - HGNC]
PPP1R15B:protein phosphatase 1 regulatory subunit 15B [Gene - OMIM - HGNC]
PTPN7:protein tyrosine phosphatase non-receptor type 7 [Gene - OMIM - HGNC]
PTPRC:protein tyrosine phosphatase receptor type C [Gene - OMIM - HGNC]
RHEX:regulator of hemoglobinization and erythroid cell expansion [Gene - OMIM - HGNC]
REN:renin [Gene - OMIM - HGNC]
SHISA4:shisa family member 4 [Gene - OMIM - HGNC]
SNRPE:small nuclear ribonucleoprotein polypeptide E [Gene - OMIM - HGNC]
SLC26A9:solute carrier family 26 member 9 [Gene - OMIM - HGNC]
SLC41A1:solute carrier family 41 member 1 [Gene - OMIM - HGNC]
SLC45A3:solute carrier family 45 member 3 [Gene - OMIM - HGNC]
SYT14:synaptotagmin 14 [Gene - OMIM - HGNC]
SYT2:synaptotagmin 2 [Gene - OMIM - HGNC]
TIMM17A:translocase of inner mitochondrial membrane 17A [Gene - OMIM - HGNC]
TMCC2:transmembrane and coiled-coil domain family 2 [Gene - OMIM - HGNC]
TMEM183A:transmembrane protein 183A [Gene - HGNC]
TMEM81:transmembrane protein 81 [Gene - HGNC]
TMEM9:transmembrane protein 9 [Gene - OMIM - HGNC]
TNNI1:troponin I1, slow skeletal type [Gene - OMIM - HGNC]
TNNT2:troponin T2, cardiac type [Gene - OMIM - HGNC]
UBE2T:ubiquitin conjugating enzyme E2 T [Gene - OMIM - HGNC]
ZBED6:zinc finger BED-type containing 6 [Gene - OMIM - HGNC]
ZC3H11A:zinc finger CCCH-type containing 11A [Gene - OMIM - HGNC]
ZBTB41:zinc finger and BTB domain containing 41 [Gene - HGNC]
ZNF281:zinc finger protein 281 [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

1q31.3-32.2

Genomic location:

Chr1: 194356425 - 210988710 (on Assembly GRCh37)

Preferred name:

GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3

HGVS:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Staphylococcus haemolyticus strain S370 triose phosphate isomerase (tpi) gene, p...
Staphylococcus haemolyticus strain S370 triose phosphate isomerase (tpi) gene, partial cds
gi|2507162311|gb|OP958607.1|

Nucleotide
Staphylococcus devriesei strain S378 triose phosphate isomerase (tpi) gene, part...
Staphylococcus devriesei strain S378 triose phosphate isomerase (tpi) gene, partial cds
gi|2507162325|gb|OP958614.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001423218	GenomeConnect, ClinGen	no classification provided	not provided	unknown	phenotyping only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001423218

GenomeConnect, ClinGen

no classification provided

not provided

unknown

phenotyping only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	not provided	not provided	not provided	not provided	not provided	phenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV001423218.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	phenotyping only	not provided

Description

Variant interpretted as Pathogenic and reported on 07-08-2019 by Lab or GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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

Last Updated: Sep 1, 2024

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Relating variation to medicine