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GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
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:
RCV000447776.4

Allele description [Variation Report for GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3]

GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3

Genes:
  • HTR5A:5-hydroxytryptamine receptor 5A [Gene - OMIM - HGNC]
  • ABCB8:ATP binding cassette subfamily B member 8 [Gene - OMIM - HGNC]
  • ABCF2:ATP binding cassette subfamily F member 2 [Gene - OMIM - HGNC]
  • ATP6V0E2:ATPase H+ transporting V0 subunit e2 [Gene - OMIM - HGNC]
  • AGAP3:ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 [Gene - OMIM - HGNC]
  • DNAJB6:DnaJ heat shock protein family (Hsp40) member B6 [Gene - OMIM - HGNC]
  • FASTK:Fas activated serine/threonine kinase [Gene - OMIM - HGNC]
  • GIMAP1:GTPase, IMAP family member 1 [Gene - OMIM - HGNC]
  • GIMAP2:GTPase, IMAP family member 2 [Gene - OMIM - HGNC]
  • GIMAP4:GTPase, IMAP family member 4 [Gene - OMIM - HGNC]
  • GIMAP5:GTPase, IMAP family member 5 [Gene - OMIM - HGNC]
  • GIMAP6:GTPase, IMAP family member 6 [Gene - OMIM - HGNC]
  • GIMAP7:GTPase, IMAP family member 7 [Gene - OMIM - HGNC]
  • GIMAP8:GTPase, IMAP family member 8 [Gene - OMIM - HGNC]
  • KRBA1:KRAB-A domain containing 1 [Gene - HGNC]
  • PAXIP1:PAX interacting protein 1 [Gene - OMIM - HGNC]
  • RBM33:RNA binding motif protein 33 [Gene - HGNC]
  • RHEB:Ras homolog, mTORC1 binding [Gene - OMIM - HGNC]
  • SMARCD3:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 [Gene - OMIM - HGNC]
  • WDR86:WD repeat domain 86 [Gene - HGNC]
  • XRCC2:X-ray repair cross complementing 2 [Gene - OMIM - HGNC]
  • ZBED6CL:ZBED6 C-terminal like [Gene - OMIM - HGNC]
  • ASIC3:acid sensing ion channel subunit 3 [Gene - OMIM - HGNC]
  • ACTR3B:actin related protein 3B [Gene - HGNC]
  • ACTR3C:actin related protein 3C [Gene - HGNC]
  • AOC1:amine oxidase copper containing 1 [Gene - OMIM - HGNC]
  • ASB10:ankyrin repeat and SOCS box containing 10 [Gene - OMIM - HGNC]
  • ATG9B:autophagy related 9B [Gene - OMIM - HGNC]
  • CNPY1:canopy FGF signaling regulator 1 [Gene - OMIM - HGNC]
  • CHPF2:chondroitin polymerizing factor 2 [Gene - OMIM - HGNC]
  • CRYGN:crystallin gamma N [Gene - OMIM - HGNC]
  • CDK5:cyclin dependent kinase 5 [Gene - OMIM - HGNC]
  • DYNC2I1:dynein 2 intermediate chain 1 [Gene - OMIM - HGNC]
  • EN2:engrailed homeobox 2 [Gene - OMIM - HGNC]
  • ESYT2:extended synaptotagmin 2 [Gene - OMIM - HGNC]
  • GBX1:gastrulation brain homeobox 1 [Gene - OMIM - HGNC]
  • INSIG1:insulin induced gene 1 [Gene - OMIM - HGNC]
  • LRRC61:leucine rich repeat containing 61 [Gene - HGNC]
  • LMBR1:limb development membrane protein 1 [Gene - OMIM - HGNC]
  • KMT2C:lysine methyltransferase 2C [Gene - OMIM - HGNC]
  • MIR671:microRNA 671 [Gene - OMIM - HGNC]
  • MNX1:motor neuron and pancreas homeobox 1 [Gene - OMIM - HGNC]
  • NUB1:negative regulator of ubiquitin like proteins 1 [Gene - OMIM - HGNC]
  • NOS3:nitric oxide synthase 3 [Gene - OMIM - HGNC]
  • NCAPG2:non-SMC condensin II complex subunit G2 [Gene - OMIM - HGNC]
  • NOM1:nucleolar protein with MIF4G domain 1 [Gene - OMIM - HGNC]
  • GALNT11:polypeptide N-acetylgalactosaminyltransferase 11 [Gene - OMIM - HGNC]
  • GALNTL5:polypeptide N-acetylgalactosaminyltransferase like 5 [Gene - OMIM - HGNC]
  • KCNH2:potassium voltage-gated channel subfamily H member 2 [Gene - OMIM - HGNC]
  • PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]
  • PTPRN2:protein tyrosine phosphatase receptor type N2 [Gene - OMIM - HGNC]
  • REPIN1:replication initiator 1 [Gene - OMIM - HGNC]
  • RARRES2:retinoic acid receptor responder 2 [Gene - OMIM - HGNC]
  • RNF32:ring finger protein 32 [Gene - OMIM - HGNC]
  • SLC4A2:solute carrier family 4 member 2 [Gene - OMIM - HGNC]
  • SHH:sonic hedgehog signaling molecule [Gene - OMIM - HGNC]
  • TMUB1:transmembrane and ubiquitin like domain containing 1 [Gene - OMIM - HGNC]
  • TMEM176A:transmembrane protein 176A [Gene - OMIM - HGNC]
  • TMEM176B:transmembrane protein 176B [Gene - OMIM - HGNC]
  • UBE3C:ubiquitin protein ligase E3C [Gene - OMIM - HGNC]
  • LOC100134040:uncharacterized LOC100134040 [Gene - OMIM]
  • VIPR2:vasoactive intestinal peptide receptor 2 [Gene - OMIM - HGNC]
  • ZNF467:zinc finger protein 467 [Gene - OMIM - HGNC]
  • ZNF775:zinc finger protein 775 [Gene - HGNC]
  • ZNF862:zinc finger protein 862 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q36.1-36.3
Genomic location:
Chr7: 149261179 - 159075020 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q36.1-36.3(chr7:149261179-159075020)x3
HGVS:
    Links:
    dbVar: nssv13651425; dbVar: nsv2768478
    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
    SCV000499236ISCA Site 6

    See additional submitters

    no assertion criteria provided
    		Pathogenicunknownclinical 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 6, SCV000499236.1

    #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