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GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 29, 2016
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:
RCV000510725.3

Allele description [Variation Report for GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3]

GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3

Genes:
  • BANCR:BRAF-activated non-protein coding RNA [Gene - OMIM - HGNC]
  • CARNMT1-AS1:CARNMT1 antisense RNA 1 [Gene - HGNC]
  • GNA14:G protein subunit alpha 14 [Gene - OMIM - HGNC]
  • GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
  • KLF9:KLF transcription factor 9 [Gene - OMIM - HGNC]
  • MAMDC2:MAM domain containing 2 [Gene - OMIM - HGNC]
  • PABIR1:PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1 [Gene - OMIM - HGNC]
  • RORB:RAR related orphan receptor B [Gene - OMIM - HGNC]
  • TLE4:TLE family member 4, transcriptional corepressor [Gene - OMIM - HGNC]
  • ZNG1C:Zn regulated GTPase metalloprotein activator 1C [Gene - OMIM - HGNC]
  • ZNG1E:Zn regulated GTPase metalloprotein activator 1E [Gene - HGNC]
  • ZNG1F:Zn regulated GTPase metalloprotein activator 1F [Gene - 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]
  • CEMIP2:cell migration inducing hyaluronidase 2 [Gene - OMIM - HGNC]
  • CEP78:centrosomal protein 78 [Gene - OMIM - 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]
  • ENTREP1:endosomal transmembrane epsin interactor 1 [Gene - OMIM - HGNC]
  • FOXB2:forkhead box B2 [Gene - OMIM - HGNC]
  • FOXD4L3:forkhead box D4 like 3 [Gene - OMIM - HGNC]
  • FOXD4L4:forkhead box D4 like 4 [Gene - OMIM - HGNC]
  • FOXD4L5:forkhead box D4 like 5 [Gene - HGNC]
  • FOXD4L6:forkhead box D4 like 6 [Gene - HGNC]
  • FXN:frataxin [Gene - OMIM - HGNC]
  • GCNT1:glucosaminyl (N-acetyl) transferase 1 [Gene - OMIM - HGNC]
  • GDA:guanine deaminase [Gene - OMIM - HGNC]
  • MIR204:microRNA 204 [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]
  • SMC5:structural maintenance of chromosomes 5 [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]
  • 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:
9q21.11-21.31
Genomic location:
Chr9: 68734571 - 83557267 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q21.11-21.31(chr9:68734571-83557267)x3
HGVS:
    Links:
    dbVar: nssv13644650; dbVar: nsv2774604
    Observations:
    1

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000585363ISCA site 1

    See additional submitters

    no assertion criteria provided
    Pathogenic
    (Feb 29, 2016)
    de novoclinical testing

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

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedde novoyes1not 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, SCV000585363.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1de novoyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024