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GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 16, 2014
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:
RCV000510792.3

Allele description [Variation Report for GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4]

GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4

Genes:
  • HTR1A:5-hydroxytryptamine receptor 1A [Gene - OMIM - HGNC]
  • ADAMTS6:ADAM metallopeptidase with thrombospondin type 1 motif 6 [Gene - OMIM - HGNC]
  • CD180:CD180 molecule [Gene - OMIM - HGNC]
  • CWC27:CWC27 spliceosome associated cyclophilin [Gene - OMIM - HGNC]
  • DEPDC1B:DEP domain containing 1B [Gene - OMIM - HGNC]
  • DIMT1:DIM1 rRNA methyltransferase and ribosome maturation factor [Gene - OMIM - HGNC]
  • ELOVL7:ELOVL fatty acid elongase 7 [Gene - OMIM - HGNC]
  • ERCC8:ERCC excision repair 8, CSA ubiquitin ligase complex subunit [Gene - OMIM - HGNC]
  • MARVELD2:MARVEL domain containing 2 [Gene - OMIM - HGNC]
  • NDUFAF2:NADH:ubiquinone oxidoreductase complex assembly factor 2 [Gene - OMIM - HGNC]
  • RAD17:RAD17 checkpoint clamp loader component [Gene - OMIM - HGNC]
  • SREK1IP1:SREK1 interacting protein 1 [Gene - HGNC]
  • TAF9:TATA-box binding protein associated factor 9 [Gene - OMIM - HGNC]
  • KGD4:alpha-ketoglutarate dehydrogenase subunit 4 [Gene - OMIM - HGNC]
  • CENPH:centromere protein H [Gene - OMIM - HGNC]
  • CENPK:centromere protein K [Gene - OMIM - HGNC]
  • CCDC125:coiled-coil domain containing 125 [Gene - OMIM - HGNC]
  • CCNB1:cyclin B1 [Gene - OMIM - HGNC]
  • CDK7:cyclin dependent kinase 7 [Gene - OMIM - HGNC]
  • ERBIN:erbb2 interacting protein [Gene - OMIM - HGNC]
  • IPO11:importin 11 [Gene - OMIM - HGNC]
  • KIF2A:kinesin family member 2A [Gene - OMIM - HGNC]
  • LRRC70:leucine rich repeat containing 70 [Gene - HGNC]
  • LINC03122:long intergenic non-protein coding RNA 3122 [Gene - HGNC]
  • MAST4:microtubule associated serine/threonine kinase family member 4 [Gene - OMIM - HGNC]
  • NLN:neurolysin [Gene - OMIM - HGNC]
  • OCLN:occludin [Gene - OMIM - HGNC]
  • PPWD1:peptidylprolyl isomerase domain and WD repeat containing 1 [Gene - OMIM - HGNC]
  • PDE4D:phosphodiesterase 4D [Gene - OMIM - HGNC]
  • PIK3R1:phosphoinositide-3-kinase regulatory subunit 1 [Gene - OMIM - HGNC]
  • PART1:prostate androgen-regulated transcript 1 [Gene - OMIM - HGNC]
  • RGS7BP:regulator of G protein signaling 7 binding protein [Gene - OMIM - HGNC]
  • RNF180:ring finger protein 180 [Gene - OMIM - HGNC]
  • SHISAL2B:shisa like 2B [Gene - OMIM - HGNC]
  • SGTB:small glutamine rich tetratricopeptide repeat co-chaperone beta [Gene - OMIM - HGNC]
  • SMIM15:small integral membrane protein 15 [Gene - HGNC]
  • SLC30A5:solute carrier family 30 member 5 [Gene - OMIM - HGNC]
  • SREK1:splicing regulatory glutamic acid and lysine rich protein 1 [Gene - OMIM - HGNC]
  • TRAPPC13:trafficking protein particle complex subunit 13 [Gene - HGNC]
  • TRIM23:tripartite motif containing 23 [Gene - OMIM - HGNC]
  • ZSWIM6:zinc finger SWIM-type containing 6 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5q12.1-13.2
Genomic location:
Chr5: 58966132 - 68847066 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5q12.1-13.2(chr5:58966132-68847066)x4
HGVS:
    Links:
    dbVar: nssv13640110; dbVar: nsv2772707
    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
    SCV000585020ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Likely pathogenic
    (Jun 16, 2014)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA site 1, SCV000585020.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024