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GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 19, 2023
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:
RCV003483317.1

Allele description [Variation Report for GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1]

GRCh37/hg19 17q11.2(chr17:28387597-30812008)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]
  • 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]
  • 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: 28387597 - 30812008 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17q11.2(chr17:28387597-30812008)x1
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004230232Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (May 19, 2023)     		unknownclinical testing

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

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

    Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

    Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

    PubMed [citation]
    PMID:
    31690835
    PMCID:
    PMC7313390

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004230232.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)

    Description

    The 17q11.2 deletion interval involves several genes, including NF1 (OMIM 613113), and is associated with chromosome 17q11.2 deletion syndrome (OMIM 613675; Jenne et al., Am J Hum Genet. 2001 Sep;69(3):516-27. PMID: 11468690; Mautner et al., J Med Genet. 2010 Sep;47(9):623-30. PMID: 20543202; Pasmant et al., Hum Mutat. 2010 Jun;31(6):E1506-18. PMID: 20513137; GeneReviews [Internet]. Available from: https://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/books/NBK1109/). Based on current literature, this copy number variant is classified as pathogenic.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Feb 4, 2024