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GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jul 18, 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:
RCV000511375.3

Allele description [Variation Report for GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3]

GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3

Genes:
  • ARID5A:AT-rich interaction domain 5A [Gene - OMIM - HGNC]
  • ITPRIPL1:ITPRIP like 1 [Gene - HGNC]
  • KANSL3:KAT8 regulatory NSL complex subunit 3 [Gene - OMIM - HGNC]
  • STARD7:StAR related lipid transfer domain containing 7 [Gene - OMIM - HGNC]
  • ADRA2B:adrenoceptor alpha 2B [Gene - OMIM - HGNC]
  • ANKRD23:ankyrin repeat domain 23 [Gene - OMIM - HGNC]
  • ANKRD36:ankyrin repeat domain 36 [Gene - OMIM - HGNC]
  • ANKRD36C:ankyrin repeat domain 36C [Gene - HGNC]
  • ANKRD39:ankyrin repeat domain 39 [Gene - HGNC]
  • ASTL:astacin like metalloendopeptidase [Gene - OMIM - HGNC]
  • CNNM3:cyclin and CBS domain divalent metal cation transport mediator 3 [Gene - OMIM - HGNC]
  • CNNM4:cyclin and CBS domain divalent metal cation transport mediator 4 [Gene - OMIM - HGNC]
  • CIAO1:cytosolic iron-sulfur assembly component 1 [Gene - OMIM - HGNC]
  • DUSP2:dual specificity phosphatase 2 [Gene - OMIM - HGNC]
  • FAM178B:family with sequence similarity 178 member B [Gene - HGNC]
  • FER1L5:fer-1 like family member 5 [Gene - HGNC]
  • FAHD2B:fumarylacetoacetate hydrolase domain containing 2B [Gene - HGNC]
  • GPAT2:glycerol-3-phosphate acyltransferase 2, mitochondrial [Gene - OMIM - HGNC]
  • LMAN2L:lectin, mannose binding 2 like [Gene - OMIM - HGNC]
  • NCAPH:non-SMC condensin I complex subunit H [Gene - OMIM - HGNC]
  • SEMA4C:semaphorin 4C [Gene - OMIM - HGNC]
  • SNRNP200:small nuclear ribonucleoprotein U5 subunit 200 [Gene - OMIM - HGNC]
  • TMEM127:transmembrane protein 127 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q11.1-11.2
Genomic location:
Chr2: 96468158 - 97871906 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2q11.1-11.2(chr2:96468158-97871906)x3
HGVS:
    Links:
    dbVar: nssv13638806; dbVar: nsv2778808
    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
    SCV000586111ISCA site 1

    See additional submitters

    no assertion criteria provided
    		Likely pathogenic
    (Jul 18, 2014)     		de novoclinical testing

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

    Help

    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, SCV000586111.1

    #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