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GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 18, 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:
RCV000512567.3

Allele description [Variation Report for GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3]

GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3

Genes:
  • MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Gene - OMIM - HGNC]
  • ADAMTS16:ADAM metallopeptidase with thrombospondin type 1 motif 16 [Gene - OMIM - HGNC]
  • ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
  • ATPSCKMT:ATP synthase c subunit lysine N-methyltransferase [Gene - OMIM - HGNC]
  • CLPTM1L:CLPTM1 like [Gene - OMIM - HGNC]
  • EXOC3-AS1:EXOC3 antisense RNA 1 [Gene - HGNC]
  • FBXL7:F-box and leucine rich repeat protein 7 [Gene - OMIM - HGNC]
  • FASTKD3:FAST kinase domains 3 [Gene - OMIM - HGNC]
  • IRX2-DT:IRX2 divergent transcript [Gene - OMIM - HGNC]
  • NDUFS6:NADH:ubiquinone oxidoreductase subunit S6 [Gene - OMIM - HGNC]
  • NKD2:NKD inhibitor of WNT signaling pathway 2 [Gene - OMIM - HGNC]
  • NSUN2:NOP2/Sun RNA methyltransferase 2 [Gene - OMIM - HGNC]
  • OTULINL:OTU deubiquitinase with linear linkage specificity like [Gene - HGNC]
  • OTULIN:OTU deubiquitinase with linear linkage specificity [Gene - OMIM - HGNC]
  • OTULIN-DT:OTULIN divergent transcript [Gene - HGNC]
  • ADCY2:adenylate cyclase 2 [Gene - OMIM - HGNC]
  • ANKRD33B:ankyrin repeat domain 33B [Gene - HGNC]
  • AHRR:aryl hydrocarbon receptor repressor [Gene - OMIM - HGNC]
  • BASP1:brain abundant membrane attached signal protein 1 [Gene - OMIM - HGNC]
  • BRD9:bromodomain containing 9 [Gene - OMIM - HGNC]
  • CDH18:cadherin 18 [Gene - OMIM - HGNC]
  • CMBL:carboxymethylenebutenolidase homolog [Gene - OMIM - HGNC]
  • CTNND2:catenin delta 2 [Gene - OMIM - HGNC]
  • CEP72:centrosomal protein 72 [Gene - OMIM - HGNC]
  • CCT5:chaperonin containing TCP1 subunit 5 [Gene - OMIM - HGNC]
  • CFAP90:cilia and flagella associated protein 90 [Gene - HGNC]
  • CCDC127:coiled-coil domain containing 127 [Gene - HGNC]
  • DAP:death associated protein [Gene - OMIM - HGNC]
  • DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
  • EXOC3:exocyst complex component 3 [Gene - OMIM - HGNC]
  • ICE1:interactor of little elongation complex ELL subunit 1 [Gene - OMIM - HGNC]
  • IRX1:iroquois homeobox 1 [Gene - OMIM - HGNC]
  • IRX2:iroquois homeobox 2 [Gene - OMIM - HGNC]
  • IRX4:iroquois homeobox 4 [Gene - OMIM - HGNC]
  • LRRC14B:leucine rich repeat containing 14B [Gene - HGNC]
  • LINC01194:long intergenic non-protein coding RNA 1194 [Gene - OMIM - HGNC]
  • LPCAT1:lysophosphatidylcholine acyltransferase 1 [Gene - OMIM - HGNC]
  • MED10:mediator complex subunit 10 [Gene - OMIM - HGNC]
  • MARCHF11:membrane associated ring-CH-type finger 11 [Gene - OMIM - HGNC]
  • MARCHF6:membrane associated ring-CH-type finger 6 [Gene - OMIM - HGNC]
  • MRPL36:mitochondrial ribosomal protein L36 [Gene - OMIM - HGNC]
  • MYO10:myosin X [Gene - OMIM - HGNC]
  • PLEKHG4B:pleckstrin homology and RhoGEF domain containing G4B [Gene - OMIM - HGNC]
  • PDCD6:programmed cell death 6 [Gene - OMIM - HGNC]
  • RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]
  • ROPN1L:rhophilin associated tail protein 1 like [Gene - OMIM - HGNC]
  • SEMA5A:semaphorin 5A [Gene - OMIM - HGNC]
  • SLC12A7:solute carrier family 12 member 7 [Gene - OMIM - HGNC]
  • SLC6A18:solute carrier family 6 member 18 [Gene - OMIM - HGNC]
  • SLC6A19:solute carrier family 6 member 19 [Gene - OMIM - HGNC]
  • SLC6A3:solute carrier family 6 member 3 [Gene - OMIM - HGNC]
  • SLC9A3:solute carrier family 9 member A3 [Gene - OMIM - HGNC]
  • SRD5A1:steroid 5 alpha-reductase 1 [Gene - OMIM - HGNC]
  • SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
  • TAS2R1:taste 2 receptor member 1 [Gene - OMIM - HGNC]
  • TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
  • TENT4A:terminal nucleotidyltransferase 4A [Gene - OMIM - HGNC]
  • TRIP13:thyroid hormone receptor interactor 13 [Gene - OMIM - HGNC]
  • TRIO:trio Rho guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • TPPP:tubulin polymerization promoting protein [Gene - OMIM - HGNC]
  • UBE2QL1:ubiquitin conjugating enzyme E2 QL1 [Gene - OMIM - HGNC]
  • ZDHHC11:zinc finger DHHC-type containing 11 [Gene - HGNC]
  • ZDHHC11B:zinc finger DHHC-type containing 11B [Gene - HGNC]
  • ZNF622:zinc finger protein 622 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5p15.33-14.3
Genomic location:
Chr5: 113576 - 20240392 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 5p15.33-14.3(chr5:113576-20240392)x3
HGVS:
    Links:
    dbVar: nssv14082249; dbVar: nsv3109835
    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
    SCV000586369ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Jul 18, 2014)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    humannot 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, SCV000586369.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024