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GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 24, 2015
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:
RCV000512280.3

Allele description [Variation Report for GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4]

GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4

Genes:
  • AGTPBP1:ATP/GTP binding carboxypeptidase 1 [Gene - OMIM - HGNC]
  • BANCR:BRAF-activated non-protein coding RNA [Gene - OMIM - HGNC]
  • CARNMT1-AS1:CARNMT1 antisense RNA 1 [Gene - HGNC]
  • DAPK1-IT1:DAPK1 intronic transcript 1 [Gene - HGNC]
  • FRMD3:FERM domain containing 3 [Gene - OMIM - HGNC]
  • GKAP1:G kinase anchoring protein 1 [Gene - OMIM - HGNC]
  • GNA14:G protein subunit alpha 14 [Gene - OMIM - HGNC]
  • GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
  • IDNK:IDNK gluconokinase [Gene - OMIM - HGNC]
  • KLF9:KLF transcription factor 9 [Gene - OMIM - HGNC]
  • MAMDC2:MAM domain containing 2 [Gene - OMIM - HGNC]
  • NAA35:N-alpha-acetyltransferase 35, NatC auxiliary subunit [Gene - OMIM - HGNC]
  • PABIR1:PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 [Gene - OMIM - HGNC]
  • QNG1:Q-nucleotide N-glycosylase 1 [Gene - OMIM - HGNC]
  • RORB:RAR related orphan receptor B [Gene - OMIM - HGNC]
  • RASEF:RAS and EF-hand domain containing [Gene - OMIM - HGNC]
  • RMI1:RecQ mediated genome instability 1 [Gene - OMIM - HGNC]
  • SPATA31C1:SPATA31 subfamily C member 1 [Gene - HGNC]
  • SPATA31C2:SPATA31 subfamily C member 2 [Gene - HGNC]
  • SPATA31D1:SPATA31 subfamily D member 1 [Gene - HGNC]
  • SPATA31D3:SPATA31 subfamily D member 3 [Gene - HGNC]
  • SPATA31D4:SPATA31 subfamily D member 4 [Gene - HGNC]
  • SPATA31E1:SPATA31 subfamily E member 1 [Gene - HGNC]
  • TLE1:TLE family member 1, transcriptional corepressor [Gene - OMIM - HGNC]
  • TLE4:TLE family member 4, transcriptional corepressor [Gene - OMIM - HGNC]
  • ABHD17B:abhydrolase domain containing 17B, depalmitoylase [Gene - OMIM - HGNC]
  • ALDH1A1:aldehyde dehydrogenase 1 family member A1 [Gene - OMIM - HGNC]
  • APBA1:amyloid beta precursor protein binding family A member 1 [Gene - OMIM - HGNC]
  • ANXA1:annexin A1 [Gene - OMIM - HGNC]
  • CARNMT1:carnosine N-methyltransferase 1 [Gene - OMIM - HGNC]
  • CTSL:cathepsin L [Gene - OMIM - HGNC]
  • CEMIP2:cell migration inducing hyaluronidase 2 [Gene - OMIM - HGNC]
  • CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]
  • C9orf153:chromosome 9 open reading frame 153 [Gene - HGNC]
  • C9orf40:chromosome 9 open reading frame 40 [Gene - HGNC]
  • C9orf57:chromosome 9 open reading frame 57 [Gene - HGNC]
  • C9orf85:chromosome 9 open reading frame 85 [Gene - OMIM - HGNC]
  • CFAP95:cilia and flagella associated protein 95 [Gene - HGNC]
  • CDK20:cyclin dependent kinase 20 [Gene - OMIM - HGNC]
  • DAPK1:death associated protein kinase 1 [Gene - OMIM - HGNC]
  • ENTREP1:endosomal transmembrane epsin interactor 1 [Gene - OMIM - HGNC]
  • FOXB2:forkhead box B2 [Gene - OMIM - HGNC]
  • FXN:frataxin [Gene - OMIM - HGNC]
  • GCNT1:glucosaminyl (N-acetyl) transferase 1 [Gene - OMIM - HGNC]
  • GOLM1:golgi membrane protein 1 [Gene - OMIM - HGNC]
  • GAS1:growth arrest specific 1 [Gene - OMIM - HGNC]
  • GDA:guanine deaminase [Gene - OMIM - HGNC]
  • HNRNPK:heterogeneous nuclear ribonucleoprotein K [Gene - OMIM - HGNC]
  • ISCA1:iron-sulfur cluster assembly 1 [Gene - OMIM - HGNC]
  • KIF27:kinesin family member 27 [Gene - OMIM - HGNC]
  • LINC02872:long intergenic non-protein coding RNA 2872 [Gene - HGNC]
  • MIR204:microRNA 204 [Gene - OMIM - HGNC]
  • MIR7-1:microRNA 7-1 [Gene - OMIM - HGNC]
  • NTRK2:neurotrophic receptor tyrosine kinase 2 [Gene - OMIM - HGNC]
  • NMRK1:nicotinamide riboside kinase 1 [Gene - OMIM - HGNC]
  • OSTF1:osteoclast stimulating factor 1 [Gene - OMIM - HGNC]
  • PIP5K1B:phosphatidylinositol-4-phosphate 5-kinase type 1 beta [Gene - OMIM - HGNC]
  • PGM5:phosphoglucomutase 5 [Gene - OMIM - HGNC]
  • PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
  • PCSK5:proprotein convertase subtilisin/kexin type 5 [Gene - OMIM - HGNC]
  • PCA3:prostate cancer associated 3 [Gene - OMIM - HGNC]
  • PRKACG:protein kinase cAMP-activated catalytic subunit gamma [Gene - OMIM - HGNC]
  • PTAR1:protein prenyltransferase alpha subunit repeat containing 1 [Gene - HGNC]
  • PRUNE2:prune homolog 2 with BCH domain [Gene - OMIM - HGNC]
  • RFK:riboflavin kinase [Gene - OMIM - HGNC]
  • SLC28A3:solute carrier family 28 member 3 [Gene - OMIM - HGNC]
  • SMC5:structural maintenance of chromosomes 5 [Gene - OMIM - HGNC]
  • TUT7:terminal uridylyl transferase 7 [Gene - OMIM - HGNC]
  • TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
  • TRPM3:transient receptor potential cation channel subfamily M member 3 [Gene - OMIM - HGNC]
  • TRPM6:transient receptor potential cation channel subfamily M member 6 [Gene - OMIM - HGNC]
  • TMC1:transmembrane channel like 1 [Gene - OMIM - HGNC]
  • TMEM252:transmembrane protein 252 [Gene - HGNC]
  • UBQLN1:ubiquilin 1 [Gene - OMIM - HGNC]
  • VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]
  • ZFAND5:zinc finger AN1-type containing 5 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
9q21.11-22.1
Genomic location:
Chr9: 70966262 - 90761254 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q21.11-22.1(chr9:70966262-90761254)x4
HGVS:
    Links:
    dbVar: nssv13646302; dbVar: nsv2769481
    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
    SCV000584425ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Feb 24, 2015)     		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, SCV000584425.1

    #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