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GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 2, 2022
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:
RCV003483315.1

Allele description [Variation Report for GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1]

GRCh37/hg19 17p11.2(chr17:16651293-20450566)x1

Genes:
  • NT5M:5',3'-nucleotidase, mitochondrial [Gene - OMIM - HGNC]
  • AKAP10:A-kinase anchoring protein 10 [Gene - OMIM - HGNC]
  • ATPAF2:ATP synthase mitochondrial F1 complex assembly factor 2 [Gene - OMIM - HGNC]
  • B9D1:B9 domain containing 1 [Gene - OMIM - HGNC]
  • COPS3:COP9 signalosome subunit 3 [Gene - OMIM - HGNC]
  • TOP3A:DNA topoisomerase III alpha [Gene - OMIM - HGNC]
  • FBXW10:F-box and WD repeat domain containing 10 [Gene - OMIM - HGNC]
  • FLII:FLII actin remodeling protein [Gene - OMIM - HGNC]
  • GID4:GID complex subunit 4 homolog [Gene - OMIM - HGNC]
  • GRAPL:GRB2 related adaptor protein like [Gene - HGNC]
  • GRAP:GRB2 related adaptor protein [Gene - OMIM - HGNC]
  • LLGL1:LLGL scribble cell polarity complex component 1 [Gene - OMIM - HGNC]
  • SMCR8:SMCR8-C9orf72 complex subunit [Gene - OMIM - HGNC]
  • TBC1D28:TBC1 domain family member 28 [Gene - HGNC]
  • TNFRSF13B:TNF receptor superfamily member 13B [Gene - OMIM - HGNC]
  • ALDH3A1:aldehyde dehydrogenase 3 family member A1 [Gene - OMIM - HGNC]
  • ALDH3A2:aldehyde dehydrogenase 3 family member A2 [Gene - OMIM - HGNC]
  • ALKBH5:alkB homolog 5, RNA demethylase [Gene - OMIM - HGNC]
  • CCDC144A:coiled-coil domain containing 144A [Gene - OMIM - HGNC]
  • DRG2:developmentally regulated GTP binding protein 2 [Gene - OMIM - HGNC]
  • DRC3:dynein regulatory complex subunit 3 [Gene - OMIM - HGNC]
  • EVPLL:envoplakin like [Gene - HGNC]
  • EPN2:epsin 2 [Gene - OMIM - HGNC]
  • FAM83G:family with sequence similarity 83 member G [Gene - OMIM - HGNC]
  • FLCN:folliculin [Gene - OMIM - HGNC]
  • LGALS9B:galectin 9B [Gene - HGNC]
  • LGALS9C:galectin 9C [Gene - HGNC]
  • MED9:mediator complex subunit 9 [Gene - OMIM - HGNC]
  • MIR33B:microRNA 33b [Gene - OMIM - HGNC]
  • MFAP4:microfibril associated protein 4 [Gene - OMIM - HGNC]
  • MIEF2:mitochondrial elongation factor 2 [Gene - OMIM - HGNC]
  • MAPK7:mitogen-activated protein kinase 7 [Gene - OMIM - HGNC]
  • MYO15A:myosin XVA [Gene - OMIM - HGNC]
  • MPRIP:myosin phosphatase Rho interacting protein [Gene - OMIM - HGNC]
  • PEMT:phosphatidylethanolamine N-methyltransferase [Gene - OMIM - HGNC]
  • PLD6:phospholipase D family member 6 [Gene - OMIM - HGNC]
  • PRPSAP2:phosphoribosyl pyrophosphate synthetase associated protein 2 [Gene - OMIM - HGNC]
  • RASD1:ras related dexamethasone induced 1 [Gene - OMIM - HGNC]
  • RAI1:retinoic acid induced 1 [Gene - OMIM - HGNC]
  • RNF112:ring finger protein 112 [Gene - OMIM - HGNC]
  • SHMT1:serine hydroxymethyltransferase 1 [Gene - OMIM - HGNC]
  • SNORD3A:small nucleolar RNA, C/D box 3A [Gene - OMIM - HGNC]
  • SLC47A1:solute carrier family 47 member 1 [Gene - OMIM - HGNC]
  • SLC47A2:solute carrier family 47 member 2 [Gene - OMIM - HGNC]
  • SLC5A10:solute carrier family 5 member 10 [Gene - OMIM - HGNC]
  • SPECC1:sperm antigen with calponin homology and coiled-coil domains 1 [Gene - OMIM - HGNC]
  • SREBF1:sterol regulatory element binding transcription factor 1 [Gene - OMIM - HGNC]
  • TOM1L2:target of myb1 like 2 membrane trafficking protein [Gene - OMIM - HGNC]
  • TVP23B:trans-golgi network vesicle protein 23 homolog B [Gene - HGNC]
  • TRIM16L:tripartite motif containing 16 like [Gene - HGNC]
  • ULK2:unc-51 like autophagy activating kinase 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17p11.2
Genomic location:
Chr17: 16651293 - 20450566 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17p11.2(chr17:16651293-20450566)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
    SCV004230230Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Dec 2, 2022)     		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, SCV004230230.1

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

    Description

    This copy number loss involves multiple genes, including RAI1 (607642), haploinsufficiency of which is associated with Smith-Magenis syndrome (OMIM 182290; Rehm et al., N Engl J Med. 2015 Jun 4;372(23):2235-42. PMID: 26014595 (HGNC:9834); Falco et al., Appl Clin Genet. 2017 Nov 3;10:85-94. PMID: 29138588; Girirajan et al., Genet Med. 2006 Jul;8(7):417-27. PMID: 16845274; Gropman et al., Curr Opin Neurol. 2007 Apr;20(2):125-34. PMID: 17351481; Rinaldi et al., Genes (Basel). 2022 Feb 11;13(2):335. PMID: 35205380). See GeneReviews for additional information and references: http://www.ncbi.nlm.nih.gov/books/NBK1310.

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

    Last Updated: Feb 4, 2024