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GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 25, 2017
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:
RCV000682909.1

Allele description [Variation Report for GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3]

GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)x3

Genes:
  • NT5C3A:5'-nucleotidase, cytosolic IIIA [Gene - OMIM - HGNC]
  • ADCYAP1R1:ADCYAP receptor type I [Gene - OMIM - HGNC]
  • AVL9:AVL9 cell migration associated [Gene - OMIM - HGNC]
  • BMPER:BMP binding endothelial regulator [Gene - OMIM - HGNC]
  • BBS9:Bardet-Biedl syndrome 9 [Gene - OMIM - HGNC]
  • FKBP9:FKBP prolyl isomerase 9 [Gene - OMIM - HGNC]
  • GPR141:G protein-coupled receptor 141 [Gene - OMIM - HGNC]
  • GLI3:GLI family zinc finger 3 [Gene - OMIM - HGNC]
  • HECW1:HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]
  • HECW1-IT1:HECW1 intronic transcript 1 [Gene - HGNC]
  • HERPUD2:HERPUD family member 2 [Gene - HGNC]
  • ITPRID1:ITPR interacting domain containing 1 [Gene - HGNC]
  • KIAA0895:KIAA0895 [Gene - HGNC]
  • LSM5:LSM5 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • MPLKIP:M-phase specific PLK1 interacting protein [Gene - OMIM - HGNC]
  • MINDY4:MINDY lysine 48 deubiquitinase 4 [Gene - HGNC]
  • NME8:NME/NM23 family member 8 [Gene - OMIM - HGNC]
  • NPSR1-AS1:NPSR1 antisense RNA 1 [Gene - OMIM - HGNC]
  • POU6F2:POU class 6 homeobox 2 [Gene - OMIM - HGNC]
  • RALA:RAS like proto-oncogene A [Gene - OMIM - HGNC]
  • RP9:RP9 pre-mRNA splicing factor [Gene - OMIM - HGNC]
  • STARD3NL:STARD3 N-terminal like [Gene - OMIM - HGNC]
  • TBX20:T-box transcription factor 20 [Gene - OMIM - HGNC]
  • TARP:TCR gamma alternate reading frame protein [Gene - OMIM]
  • VPS41:VPS41 subunit of HOPS complex [Gene - OMIM - HGNC]
  • YAE1:YAE1 maturation factor of ABCE1 [Gene - HGNC]
  • AOAH:acyloxyacyl hydrolase [Gene - OMIM - HGNC]
  • AMPH:amphiphysin [Gene - OMIM - HGNC]
  • ANLN:anillin actin binding protein [Gene - OMIM - HGNC]
  • AQP1:aquaporin 1 (Colton blood group) [Gene - OMIM - HGNC]
  • C7orf25:chromosome 7 open reading frame 25 [Gene - HGNC]
  • CRHR2:corticotropin releasing hormone receptor 2 [Gene - OMIM - HGNC]
  • CDK13:cyclin dependent kinase 13 [Gene - OMIM - HGNC]
  • DPY19L1:dpy-19 like C-mannosyltransferase 1 [Gene - OMIM - HGNC]
  • EEPD1:endonuclease/exonuclease/phosphatase family domain containing 1 [Gene - OMIM - HGNC]
  • ELMO1:engulfment and cell motility 1 [Gene - OMIM - HGNC]
  • EPDR1:ependymin related 1 [Gene - OMIM - HGNC]
  • GGCT:gamma-glutamylcyclotransferase [Gene - OMIM - HGNC]
  • GARS1:glycyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • GHRHR:growth hormone releasing hormone receptor [Gene - OMIM - HGNC]
  • INMT:indolethylamine N-methyltransferase [Gene - OMIM - HGNC]
  • INHBA:inhibin subunit beta A [Gene - OMIM - HGNC]
  • KBTBD2:kelch repeat and BTB domain containing 2 [Gene - OMIM - HGNC]
  • MRPL32:mitochondrial ribosomal protein L32 [Gene - OMIM - HGNC]
  • NEUROD6:neuronal differentiation 6 [Gene - OMIM - HGNC]
  • NPSR1:neuropeptide S receptor 1 [Gene - OMIM - HGNC]
  • NOD1:nucleotide binding oligomerization domain containing 1 [Gene - OMIM - HGNC]
  • PDE1C:phosphodiesterase 1C [Gene - OMIM - HGNC]
  • PSMA2:proteasome 20S subunit alpha 2 [Gene - OMIM - HGNC]
  • PPP1R17:protein phosphatase 1 regulatory subunit 17 [Gene - OMIM - HGNC]
  • SFRP4:secreted frizzled related protein 4 [Gene - OMIM - HGNC]
  • SEPTIN7:septin 7 [Gene - OMIM - HGNC]
  • SUGCT:succinyl-CoA:glutarate-CoA transferase [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7p14.3-13
Genomic location:
Chr7: 30463886 - 43470805 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7p14.3-13(chr7:30463886-43470805)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
    SCV000810416Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Pathogenic
    (Sep 25, 2017)
    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, SCV000810416.1

    #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: Apr 23, 2022