U.S. flag

An official website of the United States government

GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 5, 2014
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:
RCV000511775.3

Allele description [Variation Report for GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3]

GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3

Genes:
  • HTR5A:5-hydroxytryptamine receptor 5A [Gene - OMIM - HGNC]
  • DNAJB6:DnaJ heat shock protein family (Hsp40) member B6 [Gene - OMIM - HGNC]
  • PAXIP1:PAX interacting protein 1 [Gene - OMIM - HGNC]
  • RBM33:RNA binding motif protein 33 [Gene - HGNC]
  • XRCC2:X-ray repair cross complementing 2 [Gene - OMIM - HGNC]
  • ACTR3B:actin related protein 3B [Gene - HGNC]
  • CNPY1:canopy FGF signaling regulator 1 [Gene - OMIM - HGNC]
  • DYNC2I1:dynein 2 intermediate chain 1 [Gene - OMIM - HGNC]
  • EN2:engrailed homeobox 2 [Gene - OMIM - HGNC]
  • ESYT2:extended synaptotagmin 2 [Gene - OMIM - HGNC]
  • INSIG1:insulin induced gene 1 [Gene - OMIM - HGNC]
  • LMBR1:limb development membrane protein 1 [Gene - OMIM - HGNC]
  • KMT2C:lysine methyltransferase 2C [Gene - OMIM - HGNC]
  • MNX1:motor neuron and pancreas homeobox 1 [Gene - OMIM - HGNC]
  • NCAPG2:non-SMC condensin II complex subunit G2 [Gene - OMIM - HGNC]
  • NOM1:nucleolar protein with MIF4G domain 1 [Gene - OMIM - HGNC]
  • GALNT11:polypeptide N-acetylgalactosaminyltransferase 11 [Gene - OMIM - HGNC]
  • GALNTL5:polypeptide N-acetylgalactosaminyltransferase like 5 [Gene - OMIM - HGNC]
  • PRKAG2:protein kinase AMP-activated non-catalytic subunit gamma 2 [Gene - OMIM - HGNC]
  • PTPRN2:protein tyrosine phosphatase receptor type N2 [Gene - OMIM - HGNC]
  • RNF32:ring finger protein 32 [Gene - OMIM - HGNC]
  • SHH:sonic hedgehog signaling molecule [Gene - OMIM - HGNC]
  • UBE3C:ubiquitin protein ligase E3C [Gene - OMIM - HGNC]
  • VIPR2:vasoactive intestinal peptide receptor 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q36.1-36.3
Genomic location:
Chr7: 151566053 - 159119707 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q36.1-36.3(chr7:151566053-159119707)x3
HGVS:
    Links:
    dbVar: nssv13641501; dbVar: nsv2775362
    Observations:
    1

    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
    SCV000585496ISCA site 1

    See additional submitters

    no assertion criteria provided
    Pathogenic
    (May 5, 2014)
    unknownclinical testing

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

    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, SCV000585496.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1human1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: May 7, 2024