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GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 23, 2021
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:
RCV002472435.1

Allele description [Variation Report for GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3]

GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3

Genes:
  • ARFIP2:ADP ribosylation factor interacting protein 2 [Gene - OMIM - HGNC]
  • ART1:ADP-ribosyltransferase 1 [Gene - OMIM - HGNC]
  • ART5:ADP-ribosyltransferase 5 [Gene - OMIM - HGNC]
  • BRSK2:BR serine/threonine kinase 2 [Gene - OMIM - HGNC]
  • CD151:CD151 molecule (Raph blood group) [Gene - OMIM - HGNC]
  • CD81:CD81 molecule [Gene - OMIM - HGNC]
  • DEAF1:DEAF1 transcription factor [Gene - OMIM - HGNC]
  • EPS8L2:EPS8 signaling adaptor L2 [Gene - OMIM - HGNC]
  • FHIP1B:FHF complex subunit HOOK interacting protein 1B [Gene - OMIM - HGNC]
  • H19:H19 imprinted maternally expressed transcript [Gene - OMIM - HGNC]
  • HRAS:HRas proto-oncogene, GTPase [Gene - OMIM - HGNC]
  • IGF2-AS:IGF2 antisense RNA [Gene - OMIM - HGNC]
  • INS-IGF2:INS-IGF2 readthrough [Gene - HGNC]
  • KCNQ1DN:KCNQ1 downstream neighbor [Gene - OMIM - HGNC]
  • KCNQ1OT1:KCNQ1 opposite strand/antisense transcript 1 [Gene - OMIM - HGNC]
  • LMO1:LIM domain only 1 [Gene - OMIM - HGNC]
  • LMNTD2-AS1:LMNTD2 antisense RNA 1 [Gene - HGNC]
  • MRGPRE:MAS related GPR family member E [Gene - OMIM - HGNC]
  • MRGPRG:MAS related GPR family member G [Gene - OMIM - HGNC]
  • MIR210HG:MIR210 host gene [Gene - HGNC]
  • MOB2:MOB kinase activator 2 [Gene - OMIM - HGNC]
  • NLRP10:NLR family pyrin domain containing 10 [Gene - OMIM - HGNC]
  • NLRP14:NLR family pyrin domain containing 14 [Gene - OMIM - HGNC]
  • NLRP6:NLR family pyrin domain containing 6 [Gene - OMIM - HGNC]
  • PHRF1:PHD and ring finger domains 1 [Gene - OMIM - HGNC]
  • PPFIBP2:PPFIA binding protein 2 [Gene - OMIM - HGNC]
  • RBMXL2:RBMX like 2 [Gene - OMIM - HGNC]
  • RIC3:RIC3 acetylcholine receptor chaperone [Gene - OMIM - HGNC]
  • POLR2L:RNA polymerase II, I and III subunit L [Gene - OMIM - HGNC]
  • RASSF7:Ras association domain family member 7 [Gene - OMIM - HGNC]
  • SLC22A18AS:SLC22A18 antisense RNA [Gene - OMIM - HGNC]
  • TAF10:TATA-box binding protein associated factor 10 [Gene - OMIM - HGNC]
  • TUB:TUB bipartite transcription factor [Gene - OMIM - HGNC]
  • ASCL2:achaete-scute family bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • AP2A2:adaptor related protein complex 2 subunit alpha 2 [Gene - OMIM - HGNC]
  • APBB1:amyloid beta precursor protein binding family B member 1 [Gene - OMIM - HGNC]
  • ANO9:anoctamin 9 [Gene - OMIM - HGNC]
  • B4GALNT4:beta-1,4-N-acetyl-galactosaminyltransferase 4 [Gene - OMIM - HGNC]
  • CDHR5:cadherin related family member 5 [Gene - OMIM - HGNC]
  • CRACR2B:calcium release activated channel regulator 2B [Gene - OMIM - HGNC]
  • CTSD:cathepsin D [Gene - OMIM - HGNC]
  • CAVIN3:caveolae associated protein 3 [Gene - OMIM - HGNC]
  • CEND1:cell cycle exit and neuronal differentiation 1 [Gene - OMIM - HGNC]
  • CHID1:chitinase domain containing 1 [Gene - OMIM - HGNC]
  • CCKBR:cholecystokinin B receptor [Gene - OMIM - HGNC]
  • CHRNA10:cholinergic receptor nicotinic alpha 10 subunit [Gene - OMIM - HGNC]
  • C11orf21:chromosome 11 open reading frame 21 [Gene - OMIM - HGNC]
  • C11orf42:chromosome 11 open reading frame 42 [Gene - HGNC]
  • C11orf40:chromosome 11 putative open reading frame 40 [Gene - HGNC]
  • CNGA4:cyclic nucleotide gated channel subunit alpha 4 [Gene - OMIM - HGNC]
  • CDKN1C:cyclin dependent kinase inhibitor 1C [Gene - OMIM - HGNC]
  • CARS1:cysteinyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • CYB5R2:cytochrome b5 reductase 2 [Gene - OMIM - HGNC]
  • DCHS1:dachsous cadherin-related 1 [Gene - OMIM - HGNC]
  • DRD4:dopamine receptor D4 [Gene - OMIM - HGNC]
  • DUSP8:dual specificity phosphatase 8 [Gene - OMIM - HGNC]
  • DNHD1:dynein heavy chain domain 1 [Gene - OMIM - HGNC]
  • EIF3F:eukaryotic translation initiation factor 3 subunit F [Gene - OMIM - HGNC]
  • GATD1:glutamine amidotransferase class 1 domain containing 1 [Gene - HGNC]
  • HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
  • HBD:hemoglobin subunit delta [Gene - OMIM - HGNC]
  • HBE1:hemoglobin subunit epsilon 1 [Gene - OMIM - HGNC]
  • HBG1:hemoglobin subunit gamma 1 [Gene - OMIM - HGNC]
  • HBG2:hemoglobin subunit gamma 2 [Gene - OMIM - HGNC]
  • HPX:hemopexin [Gene - OMIM - HGNC]
  • IGF2:insulin like growth factor 2 [Gene - OMIM - HGNC]
  • INS:insulin [Gene - OMIM - HGNC]
  • ILK:integrin linked kinase [Gene - OMIM - HGNC]
  • IFITM10:interferon induced transmembrane protein 10 [Gene - OMIM - HGNC]
  • IFITM1:interferon induced transmembrane protein 1 [Gene - OMIM - HGNC]
  • IFITM2:interferon induced transmembrane protein 2 [Gene - OMIM - HGNC]
  • IFITM3:interferon induced transmembrane protein 3 [Gene - OMIM - HGNC]
  • IFITM5:interferon induced transmembrane protein 5 [Gene - OMIM - HGNC]
  • IRF7:interferon regulatory factor 7 [Gene - OMIM - HGNC]
  • KRTAP5-1:keratin associated protein 5-1 [Gene - OMIM - HGNC]
  • KRTAP5-2:keratin associated protein 5-2 [Gene - HGNC]
  • KRTAP5-3:keratin associated protein 5-3 [Gene - HGNC]
  • KRTAP5-4:keratin associated protein 5-4 [Gene - HGNC]
  • KRTAP5-5:keratin associated protein 5-5 [Gene - HGNC]
  • KRTAP5-6:keratin associated protein 5-6 [Gene - HGNC]
  • LMNTD2:lamin tail domain containing 2 [Gene - HGNC]
  • LRRC56:leucine rich repeat containing 56 [Gene - OMIM - HGNC]
  • LSP1:lymphocyte specific protein 1 [Gene - OMIM - HGNC]
  • MMP26:matrix metallopeptidase 26 [Gene - OMIM - HGNC]
  • MIR210:microRNA 210 [Gene - OMIM - HGNC]
  • MRPL17:mitochondrial ribosomal protein L17 [Gene - OMIM - HGNC]
  • MRPL23:mitochondrial ribosomal protein L23 [Gene - OMIM - HGNC]
  • MUC2:mucin 2, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5AC:mucin 5AC, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC5B:mucin 5B, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • MUC6:mucin 6, oligomeric mucus/gel-forming [Gene - OMIM - HGNC]
  • NUP98:nucleoporin 98 and 96 precursor [Gene - OMIM - HGNC]
  • NAP1L4:nucleosome assembly protein 1 like 4 [Gene - OMIM - HGNC]
  • OLFML1:olfactomedin like 1 [Gene - HGNC]
  • OR10A2:olfactory receptor family 10 subfamily A member 2 [Gene - HGNC]
  • OR10A3:olfactory receptor family 10 subfamily A member 3 [Gene - HGNC]
  • OR10A4:olfactory receptor family 10 subfamily A member 4 [Gene - HGNC]
  • OR10A5:olfactory receptor family 10 subfamily A member 5 [Gene - OMIM - HGNC]
  • OR10A6:olfactory receptor family 10 subfamily A member 6 (gene/pseudogene) [Gene - HGNC]
  • OR2AG1:olfactory receptor family 2 subfamily AG member 1 [Gene - HGNC]
  • OR2AG2:olfactory receptor family 2 subfamily AG member 2 [Gene - HGNC]
  • OR2D2:olfactory receptor family 2 subfamily D member 2 [Gene - OMIM - HGNC]
  • OR2D3:olfactory receptor family 2 subfamily D member 3 [Gene - HGNC]
  • OR5P2:olfactory receptor family 5 subfamily P member 2 [Gene - HGNC]
  • OR5P3:olfactory receptor family 5 subfamily P member 3 [Gene - HGNC]
  • OR51A2:olfactory receptor family 51 subfamily A member 2 [Gene - HGNC]
  • OR51A4:olfactory receptor family 51 subfamily A member 4 [Gene - HGNC]
  • OR51A7:olfactory receptor family 51 subfamily A member 7 [Gene - HGNC]
  • OR51B2:olfactory receptor family 51 subfamily B member 2 [Gene - HGNC]
  • OR51B4:olfactory receptor family 51 subfamily B member 4 [Gene - HGNC]
  • OR51B5:olfactory receptor family 51 subfamily B member 5 [Gene - HGNC]
  • OR51B6:olfactory receptor family 51 subfamily B member 6 [Gene - HGNC]
  • OR51D1:olfactory receptor family 51 subfamily D member 1 [Gene - HGNC]
  • OR51E1:olfactory receptor family 51 subfamily E member 1 [Gene - OMIM - HGNC]
  • OR51E2:olfactory receptor family 51 subfamily E member 2 [Gene - OMIM - HGNC]
  • OR51F1:olfactory receptor family 51 subfamily F member 1 [Gene - HGNC]
  • OR51F2:olfactory receptor family 51 subfamily F member 2 [Gene - HGNC]
  • OR51G1:olfactory receptor family 51 subfamily G member 1 [Gene - HGNC]
  • OR51G2:olfactory receptor family 51 subfamily G member 2 [Gene - HGNC]
  • OR51I1:olfactory receptor family 51 subfamily I member 1 [Gene - HGNC]
  • OR51I2:olfactory receptor family 51 subfamily I member 2 [Gene - HGNC]
  • OR51L1:olfactory receptor family 51 subfamily L member 1 [Gene - HGNC]
  • OR51M1:olfactory receptor family 51 subfamily M member 1 [Gene - HGNC]
  • OR51Q1:olfactory receptor family 51 subfamily Q member 1 [Gene - HGNC]
  • OR51S1:olfactory receptor family 51 subfamily S member 1 [Gene - HGNC]
  • OR51T1:olfactory receptor family 51 subfamily T member 1 [Gene - HGNC]
  • OR51V1:olfactory receptor family 51 subfamily V member 1 [Gene - HGNC]
  • OR52A1:olfactory receptor family 52 subfamily A member 1 [Gene - HGNC]
  • OR52A5:olfactory receptor family 52 subfamily A member 5 [Gene - HGNC]
  • OR52B2:olfactory receptor family 52 subfamily B member 2 [Gene - HGNC]
  • OR52B4:olfactory receptor family 52 subfamily B member 4 [Gene - HGNC]
  • OR52B6:olfactory receptor family 52 subfamily B member 6 [Gene - HGNC]
  • OR52D1:olfactory receptor family 52 subfamily D member 1 [Gene - HGNC]
  • OR52E2:olfactory receptor family 52 subfamily E member 2 [Gene - HGNC]
  • OR52E4:olfactory receptor family 52 subfamily E member 4 [Gene - HGNC]
  • OR52E6:olfactory receptor family 52 subfamily E member 6 [Gene - HGNC]
  • OR52E8:olfactory receptor family 52 subfamily E member 8 [Gene - HGNC]
  • OR52H1:olfactory receptor family 52 subfamily H member 1 [Gene - HGNC]
  • OR52I1:olfactory receptor family 52 subfamily I member 1 [Gene - HGNC]
  • OR52I2:olfactory receptor family 52 subfamily I member 2 [Gene - HGNC]
  • OR52J3:olfactory receptor family 52 subfamily J member 3 [Gene - HGNC]
  • OR52K1:olfactory receptor family 52 subfamily K member 1 [Gene - HGNC]
  • OR52K2:olfactory receptor family 52 subfamily K member 2 [Gene - HGNC]
  • OR52L1:olfactory receptor family 52 subfamily L member 1 [Gene - HGNC]
  • OR52M1:olfactory receptor family 52 subfamily M member 1 [Gene - HGNC]
  • OR52N1:olfactory receptor family 52 subfamily N member 1 [Gene - HGNC]
  • OR52N2:olfactory receptor family 52 subfamily N member 2 [Gene - HGNC]
  • OR52N4:olfactory receptor family 52 subfamily N member 4 [Gene - HGNC]
  • OR52N5:olfactory receptor family 52 subfamily N member 5 [Gene - HGNC]
  • OR52R1:olfactory receptor family 52 subfamily R member 1 [Gene - HGNC]
  • OR52W1:olfactory receptor family 52 subfamily W member 1 [Gene - HGNC]
  • OR56A1:olfactory receptor family 56 subfamily A member 1 [Gene - HGNC]
  • OR56A3:olfactory receptor family 56 subfamily A member 3 [Gene - HGNC]
  • OR56A4:olfactory receptor family 56 subfamily A member 4 [Gene - HGNC]
  • OR56A5:olfactory receptor family 56 subfamily A member 5 [Gene - HGNC]
  • OR56B1:olfactory receptor family 56 subfamily B member 1 [Gene - HGNC]
  • OR56B4:olfactory receptor family 56 subfamily B member 4 [Gene - HGNC]
  • OR6A2:olfactory receptor family 6 subfamily A member 2 [Gene - OMIM - HGNC]
  • OVCH2:ovochymase 2 [Gene - OMIM - HGNC]
  • OSBPL5:oxysterol binding protein like 5 [Gene - OMIM - HGNC]
  • PIDD1:p53-induced death domain protein 1 [Gene - OMIM - HGNC]
  • PNPLA2:patatin like phospholipase domain containing 2 [Gene - OMIM - HGNC]
  • PTDSS2:phosphatidylserine synthase 2 [Gene - OMIM - HGNC]
  • PKP3:plakophilin 3 [Gene - OMIM - HGNC]
  • PHLDA2:pleckstrin homology like domain family A member 2 [Gene - OMIM - HGNC]
  • PGAP2:post-GPI attachment to proteins 2 [Gene - OMIM - HGNC]
  • KCNQ1:potassium voltage-gated channel subfamily Q member 1 [Gene - OMIM - HGNC]
  • PSMD13:proteasome 26S subunit, non-ATPase 13 [Gene - OMIM - HGNC]
  • PGGHG:protein-glucosylgalactosylhydroxylysine glucosidase [Gene - OMIM - HGNC]
  • RHOG:ras homolog family member G [Gene - OMIM - HGNC]
  • RNH1:ribonuclease/angiogenin inhibitor 1 [Gene - OMIM - HGNC]
  • RRM1:ribonucleotide reductase catalytic subunit M1 [Gene - OMIM - HGNC]
  • RRP8:ribosomal RNA processing 8 [Gene - OMIM - HGNC]
  • RPLP2:ribosomal protein lateral stalk subunit P2 [Gene - OMIM - HGNC]
  • SCT:secretin [Gene - OMIM - HGNC]
  • SIGIRR:single Ig and TIR domain containing [Gene - OMIM - HGNC]
  • SIRT3:sirtuin 3 [Gene - OMIM - HGNC]
  • SLC22A18:solute carrier family 22 member 18 [Gene - OMIM - HGNC]
  • SLC25A22:solute carrier family 25 member 22 [Gene - OMIM - HGNC]
  • SMPD1:sphingomyelin phosphodiesterase 1 [Gene - OMIM - HGNC]
  • STIM1:stromal interaction molecule 1 [Gene - OMIM - HGNC]
  • SYT8:synaptotagmin 8 [Gene - OMIM - HGNC]
  • SYT9:synaptotagmin 9 [Gene - OMIM - HGNC]
  • TSPAN32:tetraspanin 32 [Gene - OMIM - HGNC]
  • TSPAN4:tetraspanin 4 [Gene - OMIM - HGNC]
  • TOLLIP:toll interacting protein [Gene - OMIM - HGNC]
  • TALDO1:transaldolase 1 [Gene - OMIM - HGNC]
  • TRPM5:transient receptor potential cation channel subfamily M member 5 [Gene - OMIM - HGNC]
  • TIMM10B:translocase of inner mitochondrial membrane 10B [Gene - OMIM - HGNC]
  • TMEM80:transmembrane protein 80 [Gene - OMIM - HGNC]
  • TRIM21:tripartite motif containing 21 [Gene - OMIM - HGNC]
  • TRIM22:tripartite motif containing 22 [Gene - OMIM - HGNC]
  • TRIM34:tripartite motif containing 34 [Gene - OMIM - HGNC]
  • TRIM3:tripartite motif containing 3 [Gene - OMIM - HGNC]
  • TRIM5:tripartite motif containing 5 [Gene - OMIM - HGNC]
  • TRIM68:tripartite motif containing 68 [Gene - OMIM - HGNC]
  • TRIM6:tripartite motif containing 6 [Gene - OMIM - HGNC]
  • TPP1:tripeptidyl peptidase 1 [Gene - OMIM - HGNC]
  • TNNI2:troponin I2, fast skeletal type [Gene - OMIM - HGNC]
  • TNNT3:troponin T3, fast skeletal type [Gene - OMIM - HGNC]
  • TSSC4:tumor suppressing subtransferable candidate 4 [Gene - OMIM - HGNC]
  • TH:tyrosine hydroxylase [Gene - OMIM - HGNC]
  • UBQLN3:ubiquilin 3 [Gene - OMIM - HGNC]
  • UBQLNL:ubiquilin like [Gene - HGNC]
  • ZNF195:zinc finger protein 195 [Gene - OMIM - HGNC]
  • ZNF214:zinc finger protein 214 [Gene - OMIM - HGNC]
  • ZNF215:zinc finger protein 215 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11p15.5-15.4
Genomic location:
Chr11: 230616 - 8250724 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11p15.5-15.4(chr11:230616-8250724)x3
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
    SCV002772303Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Pathogenic
    (Dec 23, 2021)     		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, SCV002772303.1

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

    Description

    The copy number gain of 11p15.5p15.4 involves numerous protein-coding genes, including H19 (OMIM 103280), IGF2 (OMIM 147470), and KCNQ1 (OMIM 607542). Collectively, these genes are involved in two neighboring imprinted domains (ICR1 - OMIM 616186 and ICR2; see OMIM entry for KCNQ1). Copy number gains in this region have been associated with Beckwith-Wiedemann syndrome (BWS; OMIM 130650) and Silver-Russell syndrome 1 (SRS1; OMIM 180860). BWS is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism. SRS1 is a heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. The phenotypic expression changes during childhood and adolescence, with the facial features and asymmetry usually becoming more subtle with age. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder. Copy number gains of this locus have been associated with a clinical phenotype with incomplete penetrance (Ounap 2016; Crippa 2019). There are no similar copy number gains of this region in the general populations of the Database of Genomi cVariants. Thus, the clinical significance of this copy number variant (CNV) is pathogenic. References: Crippa et al., Front Genet. 2019 Oct 15;10:955. PMID: 31749829. Ounap et al., Mol Syndromol. 2016 Jul;7(3):110-21. PMID: 27587987.

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

    Last Updated: Sep 1, 2024