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GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Feb 1, 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:
RCV000510388.3

Allele description [Variation Report for GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3]

GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3

Genes:
  • CMTM1:CKLF like MARVEL transmembrane domain containing 1 [Gene - OMIM - HGNC]
  • CMTM2:CKLF like MARVEL transmembrane domain containing 2 [Gene - OMIM - HGNC]
  • CMTM3:CKLF like MARVEL transmembrane domain containing 3 [Gene - OMIM - HGNC]
  • CMTM4:CKLF like MARVEL transmembrane domain containing 4 [Gene - OMIM - HGNC]
  • CKLF-CMTM1:CKLF-CMTM1 readthrough [Gene - HGNC]
  • E2F4:E2F transcription factor 4 [Gene - OMIM - HGNC]
  • FBXL8:F-box and leucine rich repeat protein 8 [Gene - OMIM - HGNC]
  • NAE1:NEDD8 activating enzyme E1 subunit 1 [Gene - OMIM - HGNC]
  • RRAD:RRAD, Ras related glycolysis inhibitor and calcium channel regulator [Gene - OMIM - HGNC]
  • TRADD:TNFRSF1A associated via death domain [Gene - OMIM - HGNC]
  • B3GNT9:UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 [Gene - HGNC]
  • CDH16:cadherin 16 [Gene - OMIM - HGNC]
  • CA7:carbonic anhydrase 7 [Gene - OMIM - HGNC]
  • CES2:carboxylesterase 2 [Gene - OMIM - HGNC]
  • CES3:carboxylesterase 3 [Gene - OMIM - HGNC]
  • CES4A:carboxylesterase 4A [Gene - HGNC]
  • CKLF:chemokine like factor [Gene - OMIM - HGNC]
  • CBFB:core-binding factor subunit beta [Gene - OMIM - HGNC]
  • CIAO2B:cytosolic iron-sulfur assembly component 2B [Gene - OMIM - HGNC]
  • DYNC1LI2:dynein cytoplasmic 1 light intermediate chain 2 [Gene - OMIM - HGNC]
  • ELMO3:engulfment and cell motility 3 [Gene - OMIM - HGNC]
  • EXOC3L1:exocyst complex component 3 like 1 [Gene - OMIM - HGNC]
  • FHOD1:formin homology 2 domain containing 1 [Gene - OMIM - HGNC]
  • HSF4:heat shock transcription factor 4 [Gene - OMIM - HGNC]
  • LRRC29:leucine rich repeat containing 29 [Gene - HGNC]
  • LRRC36:leucine rich repeat containing 36 [Gene - HGNC]
  • MIR328:microRNA 328 [Gene - OMIM - HGNC]
  • MATCAP1:microtubule associated tyrosine carboxypeptidase 1 [Gene - OMIM - HGNC]
  • NOL3:nucleolar protein 3 [Gene - OMIM - HGNC]
  • PHAF1:phagosome assembly factor 1 [Gene - HGNC]
  • PLEKHG4:pleckstrin homology and RhoGEF domain containing G4 [Gene - OMIM - HGNC]
  • KCTD19:potassium channel tetramerization domain containing 19 [Gene - OMIM - HGNC]
  • PDP2:pyruvate dehydrogenase phosphatase catalytic subunit 2 [Gene - OMIM - HGNC]
  • SLC9A5:solute carrier family 9 member A5 [Gene - OMIM - HGNC]
  • TERB1:telomere repeat binding bouquet formation protein 1 [Gene - OMIM - HGNC]
  • TK2:thymidine kinase 2 [Gene - OMIM - HGNC]
  • TMEM208:transmembrane protein 208 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
16q21-22.1
Genomic location:
Chr16: 66537021 - 67369281 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3
HGVS:
    Links:
    dbVar: nssv13642255; dbVar: nsv2775100
    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
    SCV000585460ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Uncertain significance
    (Feb 1, 2016)     		maternalclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    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, SCV000585460.1

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

    Last Updated: May 7, 2024