GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 AND See cases
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 18, 2019
- Review status:
- 1 star out of maximum of 4 starscriteria provided, single submitter
- Somatic classification
of clinical impact: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Somatic classification
of oncogenicity: - None
- Review status:
- (0/4) 0 stars out of maximum of 4 starsno assertion criteria provided
- Record status:
- current
- Accession:
- RCV001194578.1
Allele description [Variation Report for GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3]
GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3
- Genes:
- BPNT1:3'(2'), 5'-bisphosphate nucleotidase 1 [Gene - OMIM - HGNC]
- MTR:5-methyltetrahydrofolate-homocysteine methyltransferase [Gene - OMIM - HGNC]
- ARF1:ADP ribosylation factor 1 [Gene - OMIM - HGNC]
- AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
- ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
- AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]
- ARID4B:AT-rich interaction domain 4B [Gene - OMIM - HGNC]
- ABCB10:ATP binding cassette subfamily B member 10 [Gene - OMIM - HGNC]
- BROX:BRO1 domain and CAAX motif containing [Gene - HGNC]
- CDC42BPA:CDC42 binding protein kinase alpha [Gene - OMIM - HGNC]
- CHML:CHM like Rab escort protein [Gene - OMIM - HGNC]
- DISC1:DISC1 scaffold protein [Gene - OMIM - HGNC]
- EDARADD:EDAR associated via death domain [Gene - OMIM - HGNC]
- EFCAB2:EF-hand calcium binding domain 2 [Gene - OMIM - HGNC]
- ENAH:ENAH actin regulator [Gene - OMIM - HGNC]
- FBXO28:F-box protein 28 [Gene - OMIM - HGNC]
- FLVCR1:FLVCR choline and heme transporter 1 [Gene - OMIM - HGNC]
- FLVCR1-DT:FLVCR1 divergent transcript [Gene - OMIM - HGNC]
- GNG4:G protein subunit gamma 4 [Gene - OMIM - HGNC]
- GPR137B:G protein-coupled receptor 137B [Gene - OMIM - HGNC]
- GPATCH2:G-patch domain containing 2 [Gene - OMIM - HGNC]
- HLX:H2.0 like homeobox [Gene - OMIM - HGNC]
- H2AC25:H2A clustered histone 25 [Gene - OMIM - HGNC]
- H2BC26:H2B clustered histone 26 [Gene - OMIM - HGNC]
- H3-3A:H3.3 histone A [Gene - OMIM - HGNC]
- H3-4:H3.4 histone, cluster member [Gene - OMIM - HGNC]
- HEATR1:HEAT repeat containing 1 [Gene - OMIM - HGNC]
- HHIPL2:HHIP like 2 [Gene - OMIM - HGNC]
- LYPD8:LY6/PLAUR domain containing 8 [Gene - OMIM - HGNC]
- MIA3:MIA SH3 domain ER export factor 3 [Gene - OMIM - HGNC]
- MIXL1:Mix paired-like homeobox [Gene - OMIM - HGNC]
- NEK2:NIMA related kinase 2 [Gene - OMIM - HGNC]
- NLRP3:NLR family pyrin domain containing 3 [Gene - OMIM - HGNC]
- NSL1:NSL1 component of MIS12 kinetochore complex [Gene - OMIM - HGNC]
- RAB3GAP2:RAB3 GTPase activating non-catalytic protein subunit 2 [Gene - OMIM - HGNC]
- RAB4A:RAB4A, member RAS oncogene family [Gene - OMIM - HGNC]
- RD3:RD3 regulator of GUCY2D [Gene - OMIM - HGNC]
- RCOR3:REST corepressor 3 [Gene - OMIM - HGNC]
- RBM34:RNA binding motif protein 34 [Gene - OMIM - HGNC]
- SPHAR:S-phase response (cyclin related) [Gene - HGNC]
- SDE2:SDE2 telomere maintenance homolog [Gene - HGNC]
- SERTAD4:SERTA domain containing 4 [Gene - HGNC]
- SMYD2:SET and MYND domain containing 2 [Gene - OMIM - HGNC]
- SMYD3:SET and MYND domain containing 3 [Gene - OMIM - HGNC]
- SH3BP5L:SH3 binding domain protein 5 like [Gene - HGNC]
- SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
- SPRTN:SprT-like N-terminal domain [Gene - OMIM - HGNC]
- TARBP1:TAR (HIV-1) RNA binding protein 1 [Gene - OMIM - HGNC]
- TAF5L:TATA-box binding protein associated factor 5 like [Gene - HGNC]
- TAF1A:TATA-box binding protein associated factor, RNA polymerase I subunit A [Gene - OMIM - HGNC]
- TRAF5:TNF receptor associated factor 5 [Gene - OMIM - HGNC]
- TATDN3:TatD DNase domain containing 3 [Gene - HGNC]
- URB2:URB2 ribosome biogenesis homolog [Gene - OMIM - HGNC]
- WDR26:WD repeat domain 26 [Gene - OMIM - HGNC]
- WDR64:WD repeat domain 64 [Gene - HGNC]
- WNT3A:Wnt family member 3A [Gene - OMIM - HGNC]
- WNT9A:Wnt family member 9A [Gene - OMIM - HGNC]
- ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
- ACTN2:actinin alpha 2 [Gene - OMIM - HGNC]
- ATF3:activating transcription factor 3 [Gene - OMIM - HGNC]
- ACBD3:acyl-CoA binding domain containing 3 [Gene - OMIM - HGNC]
- ADSS2:adenylosuccinate synthase 2 [Gene - OMIM - HGNC]
- ANGEL2:angel homolog 2 [Gene - OMIM - HGNC]
- AGT:angiotensinogen [Gene - OMIM - HGNC]
- AIDA:axin interactor, dorsalization associated [Gene - OMIM - HGNC]
- BATF3:basic leucine zipper ATF-like transcription factor 3 [Gene - OMIM - HGNC]
- B3GALNT2:beta-1,3-N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
- BTNL10:butyrophilin like 10 [Gene - HGNC]
- CAPN2:calpain 2 [Gene - OMIM - HGNC]
- CAPN8:calpain 8 [Gene - OMIM - HGNC]
- CAPN9:calpain 9 [Gene - OMIM - HGNC]
- CATSPERE:catsper channel auxiliary subunit epsilon [Gene - OMIM - HGNC]
- CCSAP:centriole, cilia and spindle associated protein [Gene - OMIM - HGNC]
- CENPF:centromere protein F [Gene - OMIM - HGNC]
- CEP170:centrosomal protein 170 [Gene - OMIM - HGNC]
- CHRM3:cholinergic receptor muscarinic 3 [Gene - OMIM - HGNC]
- C1orf115:chromosome 1 open reading frame 115 [Gene - HGNC]
- C1orf131:chromosome 1 open reading frame 131 [Gene - HGNC]
- C1orf198:chromosome 1 open reading frame 198 [Gene - HGNC]
- C1orf35:chromosome 1 open reading frame 35 [Gene - HGNC]
- COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
- CCDC185:coiled-coil domain containing 185 [Gene - HGNC]
- COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
- CNST:consortin, connexin sorting protein [Gene - OMIM - HGNC]
- CNIH3:cornichon family AMPA receptor auxiliary protein 3 [Gene - HGNC]
- CNIH4:cornichon family AMPA receptor auxiliary protein 4 [Gene - OMIM - HGNC]
- COA6:cytochrome c oxidase assembly factor 6 [Gene - OMIM - HGNC]
- COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
- DEGS1:delta 4-desaturase, sphingolipid 1 [Gene - OMIM - HGNC]
- DTL:denticleless E3 ubiquitin protein ligase homolog [Gene - OMIM - HGNC]
- DESI2:desumoylating isopeptidase 2 [Gene - OMIM - HGNC]
- DISP1:dispatched RND transporter family member 1 [Gene - OMIM - HGNC]
- DISC2:disrupted in schizophrenia 2 [Gene - OMIM - HGNC]
- DUSP10:dual specificity phosphatase 10 [Gene - OMIM - HGNC]
- DNAH14:dynein axonemal heavy chain 14 [Gene - OMIM - HGNC]
- EGLN1:egl-9 family hypoxia inducible factor 1 [Gene - OMIM - HGNC]
- ERO1B:endoplasmic reticulum oxidoreductase 1 beta [Gene - OMIM - HGNC]
- EPHX1:epoxide hydrolase 1 [Gene - OMIM - HGNC]
- ESRRG:estrogen related receptor gamma [Gene - OMIM - HGNC]
- EXOC8:exocyst complex component 8 [Gene - OMIM - HGNC]
- EXO1:exonuclease 1 [Gene - OMIM - HGNC]
- FAM177B:family with sequence similarity 177 member B [Gene - HGNC]
- FAM89A:family with sequence similarity 89 member A [Gene - HGNC]
- FMN2:formin 2 [Gene - OMIM - HGNC]
- FH:fumarate hydratase [Gene - OMIM - HGNC]
- LGALS8:galectin 8 [Gene - OMIM - HGNC]
- GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
- GGPS1:geranylgeranyl diphosphate synthase 1 [Gene - OMIM - HGNC]
- GCSAML:germinal center associated signaling and motility like [Gene - HGNC]
- EPRS1:glutamyl-prolyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
- GNPAT:glyceronephosphate O-acyltransferase [Gene - OMIM - HGNC]
- GARIN4:golgi associated RAB2 interactor family member 4 [Gene - OMIM - HGNC]
- GREM2:gremlin 2, DAN family BMP antagonist [Gene - OMIM - HGNC]
- GUK1:guanylate kinase 1 [Gene - OMIM - HGNC]
- HHAT:hedgehog acyltransferase [Gene - OMIM - HGNC]
- HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
- ITPKB:inositol-trisphosphate 3-kinase B [Gene - OMIM - HGNC]
- INTS7:integrator complex subunit 7 [Gene - OMIM - HGNC]
- IRF2BP2:interferon regulatory factor 2 binding protein 2 [Gene - OMIM - HGNC]
- IBA57:iron-sulfur cluster assembly factor IBA57 [Gene - OMIM - HGNC]
- IARS2:isoleucyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
- JMJD4:jumonji domain containing 4 [Gene - HGNC]
- KIF26B:kinesin family member 26B [Gene - OMIM - HGNC]
- KMO:kynurenine 3-monooxygenase [Gene - OMIM - HGNC]
- LBR:lamin B receptor [Gene - OMIM - HGNC]
- LEFTY1:left-right determination factor 1 [Gene - OMIM - HGNC]
- LEFTY2:left-right determination factor 2 [Gene - OMIM - HGNC]
- LIN9:lin-9 DREAM MuvB core complex component [Gene - OMIM - HGNC]
- LNCATV:lncRNA negative regulator of antiviral signaling [Gene - HGNC]
- LINC02897:long intergenic non-protein coding RNA 2897 [Gene - HGNC]
- LINC00538:long intergenic non-protein coding RNA 538 [Gene - OMIM - HGNC]
- LPGAT1:lysophosphatidylglycerol acyltransferase 1 [Gene - OMIM - HGNC]
- LYPLAL1:lysophospholipase like 1 [Gene - OMIM - HGNC]
- LYST:lysosomal trafficking regulator [Gene - OMIM - HGNC]
- MT1HL1:metallothionein 1H like 1 [Gene - HGNC]
- MIR194-1:microRNA 194-1 [Gene - OMIM - HGNC]
- MIR215:microRNA 215 [Gene - OMIM - HGNC]
- MARK1:microtubule affinity regulating kinase 1 [Gene - OMIM - HGNC]
- MAP1LC3C:microtubule associated protein 1 light chain 3 gamma [Gene - OMIM - HGNC]
- MAP10:microtubule associated protein 10 [Gene - OMIM - HGNC]
- MTARC1:mitochondrial amidoxime reducing component 1 [Gene - OMIM - HGNC]
- MTARC2:mitochondrial amidoxime reducing component 2 [Gene - OMIM - HGNC]
- MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM - HGNC]
- MAP3K21:mitogen-activated protein kinase kinase kinase 21 [Gene - OMIM - HGNC]
- NENF:neudesin neurotrophic factor [Gene - OMIM - HGNC]
- NID1:nidogen 1 [Gene - OMIM - HGNC]
- NVL:nuclear VCP like [Gene - OMIM - HGNC]
- NUP133:nucleoporin 133 [Gene - OMIM - HGNC]
- NTPCR:nucleoside-triphosphatase, cancer-related [Gene - HGNC]
- OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
- OR1C1:olfactory receptor family 1 subfamily C member 1 [Gene - HGNC]
- OR11L1:olfactory receptor family 11 subfamily L member 1 [Gene - HGNC]
- OR13G1:olfactory receptor family 13 subfamily G member 1 [Gene - OMIM - HGNC]
- OR14A16:olfactory receptor family 14 subfamily A member 16 [Gene - HGNC]
- OR14C36:olfactory receptor family 14 subfamily C member 36 [Gene - HGNC]
- OR14I1:olfactory receptor family 14 subfamily I member 1 [Gene - OMIM - HGNC]
- OR2AK2:olfactory receptor family 2 subfamily AK member 2 [Gene - HGNC]
- OR2B11:olfactory receptor family 2 subfamily B member 11 [Gene - HGNC]
- OR2C3:olfactory receptor family 2 subfamily C member 3 [Gene - HGNC]
- OR2G2:olfactory receptor family 2 subfamily G member 2 [Gene - HGNC]
- OR2G3:olfactory receptor family 2 subfamily G member 3 [Gene - HGNC]
- OR2G6:olfactory receptor family 2 subfamily G member 6 [Gene - HGNC]
- OR2L13:olfactory receptor family 2 subfamily L member 13 [Gene - HGNC]
- OR2L2:olfactory receptor family 2 subfamily L member 2 [Gene - HGNC]
- OR2L3:olfactory receptor family 2 subfamily L member 3 [Gene - HGNC]
- OR2L5:olfactory receptor family 2 subfamily L member 5 [Gene - HGNC]
- OR2L8:olfactory receptor family 2 subfamily L member 8 [Gene - HGNC]
- OR2M2:olfactory receptor family 2 subfamily M member 2 [Gene - HGNC]
- OR2M3:olfactory receptor family 2 subfamily M member 3 [Gene - HGNC]
- OR2M4:olfactory receptor family 2 subfamily M member 4 [Gene - HGNC]
- OR2M5:olfactory receptor family 2 subfamily M member 5 [Gene - HGNC]
- OR2M7:olfactory receptor family 2 subfamily M member 7 [Gene - OMIM - HGNC]
- OR2T10:olfactory receptor family 2 subfamily T member 10 [Gene - HGNC]
- OR2T11:olfactory receptor family 2 subfamily T member 11 [Gene - HGNC]
- OR2T12:olfactory receptor family 2 subfamily T member 12 [Gene - HGNC]
- OR2T1:olfactory receptor family 2 subfamily T member 1 [Gene - HGNC]
- OR2T27:olfactory receptor family 2 subfamily T member 27 [Gene - HGNC]
- OR2T29:olfactory receptor family 2 subfamily T member 29 [Gene - HGNC]
- OR2T2:olfactory receptor family 2 subfamily T member 2 [Gene - HGNC]
- OR2T33:olfactory receptor family 2 subfamily T member 33 [Gene - HGNC]
- OR2T34:olfactory receptor family 2 subfamily T member 34 [Gene - HGNC]
- OR2T35:olfactory receptor family 2 subfamily T member 35 [Gene - HGNC]
- OR2T3:olfactory receptor family 2 subfamily T member 3 [Gene - HGNC]
- OR2T4:olfactory receptor family 2 subfamily T member 4 [Gene - HGNC]
- OR2T5:olfactory receptor family 2 subfamily T member 5 [Gene - HGNC]
- OR2T6:olfactory receptor family 2 subfamily T member 6 [Gene - HGNC]
- OR2T8:olfactory receptor family 2 subfamily T member 8 [Gene - HGNC]
- OR2W3:olfactory receptor family 2 subfamily W member 3 [Gene - OMIM - HGNC]
- OR6F1:olfactory receptor family 6 subfamily F member 1 [Gene - HGNC]
- OPN3:opsin 3 [Gene - OMIM - HGNC]
- PCNX2:pecanex 2 [Gene - OMIM - HGNC]
- PLD5:phospholipase D family member 5 [Gene - HGNC]
- PGBD2:piggyBac transposable element derived 2 [Gene - HGNC]
- PGBD5:piggyBac transposable element derived 5 [Gene - OMIM - HGNC]
- PARP1:poly(ADP-ribose) polymerase 1 [Gene - OMIM - HGNC]
- GALNT2:polypeptide N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
- KCTD3:potassium channel tetramerization domain containing 3 [Gene - OMIM - HGNC]
- KCNK1:potassium two pore domain channel subfamily K member 1 [Gene - OMIM - HGNC]
- KCNK2:potassium two pore domain channel subfamily K member 2 [Gene - OMIM - HGNC]
- KCNH1:potassium voltage-gated channel subfamily H member 1 [Gene - OMIM - HGNC]
- PSEN2:presenilin 2 [Gene - OMIM - HGNC]
- PROX1:prospero homeobox 1 [Gene - OMIM - HGNC]
- PPP2R5A:protein phosphatase 2 regulatory subunit B'alpha [Gene - OMIM - HGNC]
- PTPN14:protein tyrosine phosphatase non-receptor type 14 [Gene - OMIM - HGNC]
- PACC1:proton activated chloride channel 1 [Gene - OMIM - HGNC]
- PYCR2:pyrroline-5-carboxylate reductase 2 [Gene - OMIM - HGNC]
- RHOU:ras homolog family member U [Gene - OMIM - HGNC]
- RGS7:regulator of G protein signaling 7 [Gene - OMIM - HGNC]
- RRP15:ribosomal RNA processing 15 homolog [Gene - OMIM - HGNC]
- RPS6KC1:ribosomal protein S6 kinase C1 [Gene - OMIM - HGNC]
- RNF187:ring finger protein 187 [Gene - OMIM - HGNC]
- RYR2:ryanodine receptor 2 [Gene - OMIM - HGNC]
- SCCPDH:saccharopine dehydrogenase (putative) [Gene - HGNC]
- PRSS38:serine protease 38 [Gene - HGNC]
- SIPA1L2:signal induced proliferation associated 1 like 2 [Gene - OMIM - HGNC]
- SRP9:signal recognition particle 9 [Gene - OMIM - HGNC]
- SLC30A10:solute carrier family 30 member 10 [Gene - OMIM - HGNC]
- SLC30A1:solute carrier family 30 member 1 [Gene - OMIM - HGNC]
- SLC35F3:solute carrier family 35 member F3 [Gene - HGNC]
- SPMIP3:sperm microtubule inner protein 3 [Gene - HGNC]
- SPATA17:spermatogenesis associated 17 [Gene - OMIM - HGNC]
- SPATA45:spermatogenesis associated 45 [Gene - HGNC]
- STUM:stum, mechanosensory transduction mediator homolog [Gene - HGNC]
- SUSD4:sushi domain containing 4 [Gene - OMIM - HGNC]
- SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]
- SYT14:synaptotagmin 14 [Gene - OMIM - HGNC]
- TTC13:tetratricopeptide repeat domain 13 [Gene - HGNC]
- TLR5:toll like receptor 5 [Gene - OMIM - HGNC]
- TFB2M:transcription factor B2, mitochondrial [Gene - OMIM - HGNC]
- TGFB2:transforming growth factor beta 2 [Gene - OMIM - HGNC]
- TSNAX:translin associated factor X [Gene - OMIM - HGNC]
- TOMM20:translocase of outer mitochondrial membrane 20 [Gene - OMIM - HGNC]
- TMEM63A:transmembrane protein 63A [Gene - OMIM - HGNC]
- TRIM11:tripartite motif containing 11 [Gene - OMIM - HGNC]
- TRIM17:tripartite motif containing 17 [Gene - OMIM - HGNC]
- TRIM58:tripartite motif containing 58 [Gene - OMIM - HGNC]
- TRIM67:tripartite motif containing 67 [Gene - OMIM - HGNC]
- TBCE:tubulin folding cofactor E [Gene - OMIM - HGNC]
- TP53BP2:tumor protein p53 binding protein 2 [Gene - OMIM - HGNC]
- USH2A:usherin [Gene - OMIM - HGNC]
- VASH2:vasohibin 2 [Gene - OMIM - HGNC]
- VN1R5:vomeronasal 1 receptor 5 (gene/pseudogene) [Gene - HGNC]
- ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM - HGNC]
- ZNF124:zinc finger protein 124 [Gene - OMIM - HGNC]
- ZNF496:zinc finger protein 496 [Gene - OMIM - HGNC]
- ZNF669:zinc finger protein 669 [Gene - HGNC]
- ZNF670:zinc finger protein 670 [Gene - HGNC]
- ZNF672:zinc finger protein 672 [Gene - HGNC]
- ZNF678:zinc finger protein 678 [Gene - HGNC]
- ZNF692:zinc finger protein 692 [Gene - OMIM - HGNC]
- ZNF695:zinc finger protein 695 [Gene - OMIM - HGNC]
- ZP4:zona pellucida glycoprotein 4 [Gene - OMIM - HGNC]
- Variant type:
- copy number gain
- Cytogenetic location:
- 1q32.2-44
- Genomic location:
- Chr1: 210152794 - 249218992 (on Assembly GRCh37)
- Preferred name:
- GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3
- HGVS:
- This HGVS expression did not pass validation
- Observations:
- 1
Condition(s)
- Name:
- See cases [See the Variation display for details]
- Identifiers:
Assertion and evidence details
Submission Accession | Submitter | Review Status (Assertion method) | Clinical Significance (Last evaluated) | Origin | Method | Citations |
---|---|---|---|---|---|---|
SCV001364222 | Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington | criteria provided, single submitter (Clinical Cytogenomics Laboratory Policy on CNV Interpretation) | Pathogenic (Dec 18, 2019) | unknown | clinical testing |
Summary from all submissions
Ethnicity | Origin | Affected | Individuals | Families | Chromosomes tested | Number Tested | Family history | Method |
---|---|---|---|---|---|---|---|---|
not provided | unknown | yes | 1 | 1 | not provided | not provided | not provided | clinical testing |
Details of each submission
From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001364222.1
# | Ethnicity | Individuals | Chromosomes Tested | Family History | Method | Citations |
---|---|---|---|---|---|---|
1 | not provided | 1 | not provided | not provided | clinical testing | not provided |
Description
Patient also has 14q32.2q32.33(96,829,290-107,287,663)x1
# | Sample | Method | Observation | |||||||
---|---|---|---|---|---|---|---|---|---|---|
Origin | Affected | Number tested | Tissue | Purpose | Method | Individuals | Allele frequency | Families | Co-occurrences | |
1 | unknown | yes | not provided | Products of conception | not provided | 1 | not provided | 1 | not provided |
Last Updated: Oct 14, 2023