GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3 AND See cases

Clinical significance:conflicting data from submitters (Last evaluated: Feb 29, 2016)

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

conflicting data from submitters (no assertion criteria provided)

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000511874.1

Allele description [Variation Report for GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3]

GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3

Genes:
  • PDZD9:PDZ domain containing 9 [Gene - HGNC]
  • POLR3E:RNA polymerase III subunit E [Gene - OMIM - HGNC]
  • CDR2:cerebellar degeneration related protein 2 [Gene - OMIM - HGNC]
  • EEF2K:eukaryotic elongation factor 2 kinase [Gene - OMIM - HGNC]
  • MOSMO:modulator of smoothened [Gene - HGNC]
  • NPIPB4:nuclear pore complex interacting protein family member B4 [Gene - HGNC]
  • SDR42E2:short chain dehydrogenase/reductase family 42E, member 2 [Gene - HGNC]
  • UQCRC2:ubiquinol-cytochrome c reductase core protein 2 [Gene - OMIM - HGNC]
  • VWA3A:von Willebrand factor A domain containing 3A [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16p12.2
Genomic location:
Chr16: 21801889 - 22431357 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16p12.2(chr16:21801889-22431357)x3
HGVS:
    Links:
    dbVar: nssv13641637; dbVar: nssv13653358; dbVar: nssv13653770; dbVar: nsv995818
    Observations:
    3

    Condition(s)

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000586678ISCA site 1

    See additional submitters

    no assertion criteria providedconflicting data from submitters
    (Feb 29, 2016)
    maternal, 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.

    SCV000586678

    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/].

    SCV000586678

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes2not providednot providednot providednot providedclinical testing
    not providedmaternalyes1not 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, SCV000586678.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    2not provided1not providednot providedclinical testing PubMed (1)
    3not provided1not providednot providedclinical testing PubMed (1)

    Description

    Uncertain significance(2), Likely benign (1)

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1maternalyesnot providednot providedDiscovery1not providednot providednot provided
    2not providedyesnot providednot providedDiscovery1not providednot providednot provided
    3not providedyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 19, 2021

    Support Center