GRCh37/hg19 16q22.1(chr16:69369131-69941373)x3 AND See cases

Clinical significance:Uncertain significance (Last evaluated: Feb 16, 2015)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000511639.1

Allele description [Variation Report for GRCh37/hg19 16q22.1(chr16:69369131-69941373)x3]

GRCh37/hg19 16q22.1(chr16:69369131-69941373)x3

Genes:
  • NQO1:NAD(P)H quinone dehydrogenase 1 [Gene - OMIM - HGNC]
  • NOB1:NIN1 (RPN12) binding protein 1 homolog [Gene - OMIM - HGNC]
  • WWP2:WW domain containing E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • COG8:component of oligomeric golgi complex 8 [Gene - OMIM - HGNC]
  • CYB5B:cytochrome b5 type B [Gene - OMIM - HGNC]
  • NFAT5:nuclear factor of activated T cells 5 [Gene - OMIM - HGNC]
  • NIP7:nucleolar pre-rRNA processing protein NIP7 [Gene - HGNC]
  • TERF2:telomeric repeat binding factor 2 [Gene - OMIM - HGNC]
  • TMED6:transmembrane p24 trafficking protein 6 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16q22.1
Genomic location:
Chr16: 69369131 - 69941373 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16q22.1(chr16:69369131-69941373)x3
HGVS:
    Links:
    dbVar: nssv13651874; dbVar: nsv2774919
    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
    SCV000585430ISCA site 1

    See additional submitters

    no assertion criteria providedUncertain significance
    (Feb 16, 2015)
    not providedclinical testing

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

    Description

    Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

    SCV000585430

    Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

    SCV000585430

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    humannot 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, SCV000585430.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1not providedyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Dec 17, 2019

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