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GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000767711.1

Allele description [Variation Report for GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)]

GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)

Genes:
  • PHYKPL:5-phosphohydroxy-L-lysine phospho-lyase [Gene - OMIM - HGNC]
  • ADAMTS2:ADAM metallopeptidase with thrombospondin type 1 motif 2 [Gene - OMIM - HGNC]
  • ARL10:ADP ribosylation factor like GTPase 10 [Gene - HGNC]
  • CNOT6:CCR4-NOT transcription complex subunit 6 [Gene - OMIM - HGNC]
  • CLK4:CDC like kinase 4 [Gene - OMIM - HGNC]
  • DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
  • FAF2:Fas associated factor family member 2 [Gene - OMIM - HGNC]
  • GPRIN1:G protein regulated inducer of neurite outgrowth 1 [Gene - OMIM - HGNC]
  • GRK6:G protein-coupled receptor kinase 6 [Gene - OMIM - HGNC]
  • HIGD2A:HIG1 hypoxia inducible domain family member 2A [Gene - HGNC]
  • KIAA1191:KIAA1191 [Gene - HGNC]
  • MXD3:MAX dimerization protein 3 [Gene - OMIM - HGNC]
  • MRNIP:MRN complex interacting protein [Gene - OMIM - HGNC]
  • N4BP3:NEDD4 binding protein 3 [Gene - OMIM - HGNC]
  • NHP2:NHP2 ribonucleoprotein [Gene - OMIM - HGNC]
  • NOP16:NOP16 nucleolar protein [Gene - OMIM - HGNC]
  • PDLIM7:PDZ and LIM domain 7 [Gene - OMIM - HGNC]
  • PRELID1:PRELI domain containing 1 [Gene - OMIM - HGNC]
  • PROP1:PROP paired-like homeobox 1 [Gene - OMIM - HGNC]
  • RAB24:RAB24, member RAS oncogene family [Gene - OMIM - HGNC]
  • RUFY1:RUN and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • RASGEF1C:RasGEF domain family member 1C [Gene - HGNC]
  • SIMC1:SUMO interacting motifs containing 1 [Gene - OMIM - HGNC]
  • TBC1D9B:TBC1 domain family member 9B [Gene - OMIM - HGNC]
  • THOC3:THO complex subunit 3 [Gene - OMIM - HGNC]
  • ZFP2:ZFP2 zinc finger protein [Gene - HGNC]
  • ZFP62:ZFP62 zinc finger protein [Gene - OMIM - HGNC]
  • MGAT1:alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase [Gene - OMIM - HGNC]
  • MGAT4B:alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B [Gene - OMIM - HGNC]
  • B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]
  • BTNL3:butyrophilin like 3 [Gene - OMIM - HGNC]
  • BTNL8:butyrophilin like 8 [Gene - OMIM - HGNC]
  • BTNL9:butyrophilin like 9 [Gene - HGNC]
  • CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
  • CANX:calnexin [Gene - OMIM - HGNC]
  • CBY3:chibby family member 3 [Gene - HGNC]
  • C5orf60:chromosome 5 open reading frame 60 [Gene - HGNC]
  • CLTB:clathrin light chain B [Gene - OMIM - HGNC]
  • F12:coagulation factor XII [Gene - OMIM - HGNC]
  • COL23A1:collagen type XXIII alpha 1 chain [Gene - OMIM - HGNC]
  • CPLX2:complexin 2 [Gene - OMIM - HGNC]
  • DOK3:docking protein 3 [Gene - OMIM - HGNC]
  • DBN1:drebrin 1 [Gene - OMIM - HGNC]
  • EIF4E1B:eukaryotic translation initiation factor 4E family member 1B [Gene - HGNC]
  • FAM153A:family with sequence similarity 153 member A [Gene - HGNC]
  • FAM153B:family with sequence similarity 153 member B [Gene - HGNC]
  • FAM193B:family with sequence similarity 193 member B [Gene - OMIM - HGNC]
  • FGFR4:fibroblast growth factor receptor 4 [Gene - OMIM - HGNC]
  • FLT4:fms related receptor tyrosine kinase 4 [Gene - OMIM - HGNC]
  • GRM6:glutamate metabotropic receptor 6 [Gene - OMIM - HGNC]
  • GFPT2:glutamine-fructose-6-phosphate transaminase 2 [Gene - OMIM - HGNC]
  • HNRNPAB:heterogeneous nuclear ribonucleoprotein A/B [Gene - OMIM - HGNC]
  • HNRNPH1:heterogeneous nuclear ribonucleoprotein H1 [Gene - OMIM - HGNC]
  • HK3:hexokinase 3 [Gene - OMIM - HGNC]
  • HRH2:histamine receptor H2 [Gene - OMIM - HGNC]
  • LMAN2:lectin, mannose binding 2 [Gene - OMIM - HGNC]
  • LTC4S:leukotriene C4 synthase [Gene - OMIM - HGNC]
  • MAML1:mastermind like transcriptional coactivator 1 [Gene - OMIM - HGNC]
  • MAPK9:mitogen-activated protein kinase 9 [Gene - OMIM - HGNC]
  • NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
  • OR2V1:olfactory receptor family 2 subfamily V member 1 [Gene - HGNC]
  • OR2V2:olfactory receptor family 2 subfamily V member 2 [Gene - HGNC]
  • OR2Y1:olfactory receptor family 2 subfamily Y member 1 [Gene - HGNC]
  • PFN3:profilin 3 [Gene - OMIM - HGNC]
  • PRR7:proline rich 7, synaptic [Gene - OMIM - HGNC]
  • RACK1:receptor for activated C kinase 1 [Gene - OMIM - HGNC]
  • RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]
  • RMND5B:required for meiotic nuclear division 5 homolog B [Gene - HGNC]
  • RNF130:ring finger protein 130 [Gene - OMIM - HGNC]
  • RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
  • SCGB3A1:secretoglobin family 3A member 1 [Gene - OMIM - HGNC]
  • SQSTM1:sequestosome 1 [Gene - OMIM - HGNC]
  • SLC34A1:solute carrier family 34 member 1 [Gene - OMIM - HGNC]
  • SNCB:synuclein beta [Gene - OMIM - HGNC]
  • TRK-CTT2-3:tRNA-Lys (anticodon CTT) 2-3 [Gene - OMIM - HGNC]
  • TRP-TGG3-1:tRNA-Pro (anticodon TGG) 3-1 [Gene - OMIM - HGNC]
  • TRT-TGT6-1:tRNA-Thr (anticodon TGT) 6-1 [Gene - OMIM - HGNC]
  • TRV-AAC1-4:tRNA-Val (anticodon AAC) 1-4 [Gene - OMIM - HGNC]
  • TRV-CAC1-2:tRNA-Val (anticodon CAC) 1-2 [Gene - OMIM - HGNC]
  • TSPAN17:tetraspanin 17 [Gene - HGNC]
  • TMED9:transmembrane p24 trafficking protein 9 [Gene - HGNC]
  • TRIM41:tripartite motif containing 41 [Gene - OMIM - HGNC]
  • TRIM52:tripartite motif containing 52 [Gene - OMIM - HGNC]
  • TRIM7:tripartite motif containing 7 [Gene - OMIM - HGNC]
  • UIMC1:ubiquitin interaction motif containing 1 [Gene - OMIM - HGNC]
  • UNC5A:unc-5 netrin receptor A [Gene - OMIM - HGNC]
  • ZNF346:zinc finger protein 346 [Gene - OMIM - HGNC]
  • ZNF354A:zinc finger protein 354A [Gene - OMIM - HGNC]
  • ZNF354B:zinc finger protein 354B [Gene - HGNC]
  • ZNF354C:zinc finger protein 354C [Gene - OMIM - HGNC]
  • ZNF454:zinc finger protein 454 [Gene - HGNC]
  • ZNF879:zinc finger protein 879 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5q35.2-35.3
Genomic location:
Chr5: 174990352 - 180690937 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q35.2-35.3(chr5:174990352-180690937)
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000898333Baylor Genetics
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Pathogenic
(Nov 1, 2018) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes11not providednot providednot providedclinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Baylor Genetics, SCV000898333.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Duplications involving this region have been previously reported in patients with short stature, microcephaly, and speech delay (PMID: 19844260)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not provided1not provided

Last Updated: Mar 26, 2023