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GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1 AND not specified

Germline classification:
Pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003987216.1

Allele description [Variation Report for GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1]

GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1

Genes:
  • ATAD5:ATPase family AAA domain containing 5 [Gene - OMIM - HGNC]
  • ADAP2:ArfGAP with dual PH domains 2 [Gene - OMIM - HGNC]
  • EFCAB5:EF-hand calcium binding domain 5 [Gene - HGNC]
  • RAB11FIP4:RAB11 family interacting protein 4 [Gene - OMIM - HGNC]
  • SUZ12:SUZ12 polycomb repressive complex 2 subunit [Gene - OMIM - HGNC]
  • TBC1D29P:TBC1 domain family member 29, pseudogene [Gene - HGNC]
  • UTP6:UTP6 small subunit processome component [Gene - HGNC]
  • BLMH:bleomycin hydrolase [Gene - OMIM - HGNC]
  • CPD:carboxypeptidase D [Gene - OMIM - HGNC]
  • C17orf75:chromosome 17 open reading frame 75 [Gene - HGNC]
  • COPRS:coordinator of PRMT5 and differentiation stimulator [Gene - HGNC]
  • CDK5R1:cyclin dependent kinase 5 regulatory subunit 1 [Gene - OMIM - HGNC]
  • CRLF3:cytokine receptor like factor 3 [Gene - OMIM - HGNC]
  • EVI2A:ecotropic viral integration site 2A [Gene - OMIM - HGNC]
  • EVI2B:ecotropic viral integration site 2B [Gene - OMIM - HGNC]
  • GOSR1:golgi SNAP receptor complex member 1 [Gene - OMIM - HGNC]
  • LRRC37B:leucine rich repeat containing 37B [Gene - OMIM - HGNC]
  • MIR193A:microRNA 193a [Gene - OMIM - HGNC]
  • MYO1D:myosin ID [Gene - OMIM - HGNC]
  • NF1:neurofibromin 1 [Gene - OMIM - HGNC]
  • NSRP1:nuclear speckle splicing regulatory protein 1 [Gene - OMIM - HGNC]
  • OMG:oligodendrocyte myelin glycoprotein [Gene - OMIM - HGNC]
  • PSMD11:proteasome 26S subunit, non-ATPase 11 [Gene - OMIM - HGNC]
  • RHOT1:ras homolog family member T1 [Gene - OMIM - HGNC]
  • RHBDL3:rhomboid like 3 [Gene - OMIM - HGNC]
  • RNF135:ring finger protein 135 [Gene - OMIM - HGNC]
  • SLC6A4:solute carrier family 6 member 4 [Gene - OMIM - HGNC]
  • TEFM:transcription elongation factor, mitochondrial [Gene - OMIM - HGNC]
  • TMIGD1:transmembrane and immunoglobulin domain containing 1 [Gene - HGNC]
  • ZNF207:zinc finger protein 207 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17q11.2
Genomic location:
Chr17: 28277040 - 30903559 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q11.2(chr17:28277040-30903559)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    AllHighlyPenetrant
    Identifiers:
    MedGen: CN169374

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004802148ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)    		Pathogenicgermlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknown1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802148.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot provided1not providednot providednot provided

    Last Updated: Mar 30, 2024