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GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 11, 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:
RCV001007415.1

Allele description [Variation Report for GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3]

GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3

Genes:
  • ARB2A:ARB2 cotranscriptional regulator A [Gene - HGNC]
  • FBXL17:F-box and leucine rich repeat protein 17 [Gene - OMIM - HGNC]
  • FER:FER tyrosine kinase [Gene - OMIM - HGNC]
  • GPR150:G protein-coupled receptor 150 [Gene - HGNC]
  • KIAA0825:KIAA0825 [Gene - OMIM - HGNC]
  • LYSMD3:LysM domain containing 3 [Gene - HGNC]
  • POU5F2:POU domain class 5, transcription factor 2 [Gene - HGNC]
  • RIOK2:RIO kinase 2 [Gene - OMIM - HGNC]
  • POLR3G:RNA polymerase III subunit G [Gene - OMIM - HGNC]
  • RHOBTB3:Rho related BTB domain containing 3 [Gene - OMIM - HGNC]
  • RFESD:Rieske Fe-S domain containing [Gene - HGNC]
  • SKIC3:SKI3 subunit of superkiller complex [Gene - OMIM - HGNC]
  • SLF1:SMC5-SMC6 complex localization factor 1 [Gene - OMIM - HGNC]
  • ST8SIA4:ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4 [Gene - OMIM - HGNC]
  • ADGRV1:adhesion G protein-coupled receptor V1 [Gene - OMIM - HGNC]
  • ARRDC3:arrestin domain containing 3 [Gene - OMIM - HGNC]
  • ARSK:arylsulfatase family member K [Gene - OMIM - HGNC]
  • CAST:calpastatin [Gene - OMIM - HGNC]
  • CETN3:centrin 3 [Gene - OMIM - HGNC]
  • CHD1:chromodomain helicase DNA binding protein 1 [Gene - OMIM - HGNC]
  • PPIP5K2:diphosphoinositol pentakisphosphate kinase 2 [Gene - OMIM - HGNC]
  • ELL2:elongation factor for RNA polymerase II 2 [Gene - OMIM - HGNC]
  • ERAP1:endoplasmic reticulum aminopeptidase 1 [Gene - OMIM - HGNC]
  • ERAP2:endoplasmic reticulum aminopeptidase 2 [Gene - OMIM - HGNC]
  • EFNA5:ephrin A5 [Gene - OMIM - HGNC]
  • FAM174A:family with sequence similarity 174 member A [Gene - HGNC]
  • FAM81B:family with sequence similarity 81 member B [Gene - HGNC]
  • GLRX:glutaredoxin [Gene - OMIM - HGNC]
  • GIN1:gypsy retrotransposon integrase 1 [Gene - HGNC]
  • LNPEP:leucyl and cystinyl aminopeptidase [Gene - OMIM - HGNC]
  • LIX1:limb and CNS expressed 1 [Gene - OMIM - HGNC]
  • LUCAT1:lung cancer associated transcript 1 [Gene - OMIM - HGNC]
  • MACIR:macrophage immunometabolism regulator [Gene - OMIM - HGNC]
  • MAN2A1:mannosidase alpha class 2A member 1 [Gene - OMIM - HGNC]
  • MBLAC2:metallo-beta-lactamase domain containing 2 [Gene - HGNC]
  • MIR9-2:microRNA 9-2 [Gene - OMIM - HGNC]
  • MCTP1:multiple C2 and transmembrane domain containing 1 [Gene - OMIM - HGNC]
  • MEF2C:myocyte enhancer factor 2C [Gene - OMIM - HGNC]
  • NR2F1:nuclear receptor subfamily 2 group F member 1 [Gene - OMIM - HGNC]
  • NUDT12:nudix hydrolase 12 [Gene - OMIM - HGNC]
  • PAM:peptidylglycine alpha-amidating monooxygenase [Gene - OMIM - HGNC]
  • PJA2:praja ring finger ubiquitin ligase 2 [Gene - OMIM - HGNC]
  • PCSK1:proprotein convertase subtilisin/kexin type 1 [Gene - OMIM - HGNC]
  • RGMB:repulsive guidance molecule BMP co-receptor b [Gene - OMIM - HGNC]
  • SLCO4C1:solute carrier organic anion transporter family member 4C1 [Gene - OMIM - HGNC]
  • SLCO6A1:solute carrier organic anion transporter family member 6A1 [Gene - OMIM - HGNC]
  • SPATA9:spermatogenesis associated 9 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5q14.3-21.3
Genomic location:
Chr5: 87792844 - 109221844 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q14.3-21.3(chr5:87792844-109221844)x3
HGVS:
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001167027Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
    criteria provided, single submitter

    (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)    		Likely pathogenic
    (Jun 11, 2018)     		unknownclinical testing

    PubMed (3)
    [See all records that cite these PMIDs]

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes11not providednot providednot providedclinical testing

    Citations

    PubMed

    Prenatal detection of 5q14.3 duplication including MEF2C and brain phenotype.

    Cesaretti C, Spaccini L, Righini A, Parazzini C, Conte G, Crosti F, Redaelli S, Bulfamante G, Avagliano L, Rustico M.

    Am J Med Genet A. 2016 May;170A(5):1352-7. doi: 10.1002/ajmg.a.37594. Epub 2016 Feb 10.

    PubMed [citation]
    PMID:
    26864752

    MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or cerebral malformations.

    Le Meur N, Holder-Espinasse M, Jaillard S, Goldenberg A, Joriot S, Amati-Bonneau P, Guichet A, Barth M, Charollais A, Journel H, Auvin S, Boucher C, Kerckaert JP, David V, Manouvrier-Hanu S, Saugier-Veber P, Frébourg T, Dubourg C, Andrieux J, Bonneau D.

    J Med Genet. 2010 Jan;47(1):22-9. doi: 10.1136/jmg.2009.069732. Epub 2009 Jul 9.

    PubMed [citation]
    PMID:
    19592390
    PMCID:
    PMC2848840
    See all PubMed Citations (3)

    Details of each submission

    From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001167027.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (3)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providedPeripheral bloodnot provided1not provided1not provided

    Last Updated: Oct 14, 2023