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GRCh37/hg19 2p13.1-12(chr2:74901369-75196822)x3 AND See cases

Germline classification:
Likely benign (1 submission)
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:
RCV000447094.4

Allele description [Variation Report for GRCh37/hg19 2p13.1-12(chr2:74901369-75196822)x3]

GRCh37/hg19 2p13.1-12(chr2:74901369-75196822)x3

Genes:
POLE4:DNA polymerase epsilon 4, accessory subunit [Gene - OMIM - HGNC]
HK2:hexokinase 2 [Gene - OMIM - HGNC]
SEMA4F:ssemaphorin 4F [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2p13.1-12
Genomic location:
Chr2: 74901369 - 75196822 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 2p13.1-12(chr2:74901369-75196822)x3
HGVS:
    Links:
    dbVar: nssv13640395; dbVar: nsv2778160
    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
    SCV000500973ISCA Site 6

    See additional submitters

    no assertion criteria provided
    		Likely benignunknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot 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 6, SCV000500973.1

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

    Last Updated: May 7, 2024