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GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 17, 2020
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:
RCV001827941.1

Allele description [Variation Report for GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3]

GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)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]
  • RNY1:RNA, Ro60-associated Y1 [Gene - OMIM - HGNC]
  • RNY3:RNA, Ro60-associated Y3 [Gene - OMIM - HGNC]
  • RNY4:RNA, Ro60-associated Y4 [Gene - OMIM - HGNC]
  • RNY5:RNA, Ro60-associated Y5 [Gene - OMIM - 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]
  • C7orf33:chromosome 7 open reading frame 33 [Gene - HGNC]
  • CRYGN:crystallin gamma N [Gene - OMIM - HGNC]
  • CUL1:cullin 1 [Gene - OMIM - HGNC]
  • CDK5:cyclin dependent kinase 5 [Gene - OMIM - HGNC]
  • EN2:engrailed homeobox 2 [Gene - OMIM - HGNC]
  • EZH2:enhancer of zeste 2 polycomb repressive complex 2 subunit [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]
  • 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]
  • PDIA4:protein disulfide isomerase family A member 4 [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]
  • ZNF212:zinc finger protein 212 [Gene - OMIM - HGNC]
  • ZNF282:zinc finger protein 282 [Gene - OMIM - HGNC]
  • ZNF398:zinc finger protein 398 [Gene - OMIM - HGNC]
  • ZNF425:zinc finger protein 425 [Gene - OMIM - HGNC]
  • ZNF467:zinc finger protein 467 [Gene - OMIM - HGNC]
  • ZNF746:zinc finger protein 746 [Gene - OMIM - HGNC]
  • ZNF775:zinc finger protein 775 [Gene - HGNC]
  • ZNF777:zinc finger protein 777 [Gene - OMIM - HGNC]
  • ZNF783:zinc finger protein 783 [Gene - HGNC]
  • ZNF786:zinc finger protein 786 [Gene - HGNC]
  • ZNF862:zinc finger protein 862 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q36.1-36.3
Genomic location:
Chr7: 148153261 - 157543640 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q36.1-36.3(chr7:148153261-157543640)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV002096669Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Pathogenic
    (Jun 17, 2020)
    germlineclinical testing

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV002096669.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Nov 5, 2022