U.S. flag

An official website of the United States government

GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 14, 2020
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:
RCV001795841.4

Allele description [Variation Report for GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3]

GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3

Genes:
  • BANF2:BANF family member 2 [Gene - HGNC]
  • BTBD3:BTB domain containing 3 [Gene - OMIM - HGNC]
  • DTD1:D-aminoacyl-tRNA deacylase 1 [Gene - OMIM - HGNC]
  • ESF1:ESF1 nucleolar pre-rRNA processing protein homolog [Gene - OMIM - HGNC]
  • NDUFAF5:NADH:ubiquinone oxidoreductase complex assembly factor 5 [Gene - OMIM - HGNC]
  • PET117:PET117 cytochrome c oxidase chaperone [Gene - OMIM - HGNC]
  • RBBP9:RB binding protein 9, serine hydrolase [Gene - OMIM - HGNC]
  • POLR3F:RNA polymerase III subunit F [Gene - OMIM - HGNC]
  • SCP2D1:SCP2 sterol binding domain containing 1 [Gene - HGNC]
  • SCP2D1-AS1:SCP2D1 antisense RNA 1 [Gene - HGNC]
  • SEC23B:SEC23 homolog B, COPII coat complex component [Gene - OMIM - HGNC]
  • SEL1L2:SEL1L2 adaptor subunit of SYVN1 ubiquitin ligase [Gene - OMIM - HGNC]
  • BFSP1:beaded filament structural protein 1 [Gene - OMIM - HGNC]
  • DSTN:destrin, actin depolymerizing factor [Gene - OMIM - HGNC]
  • DZANK1:double zinc ribbon and ankyrin repeat domains 1 [Gene - OMIM - HGNC]
  • FLRT3:fibronectin leucine rich transmembrane protein 3 [Gene - OMIM - HGNC]
  • ISM1:isthmin 1 [Gene - OMIM - HGNC]
  • KIF16B:kinesin family member 16B [Gene - OMIM - HGNC]
  • KAT14:lysine acetyltransferase 14 [Gene - OMIM - HGNC]
  • MGME1:mitochondrial genome maintenance exonuclease 1 [Gene - OMIM - HGNC]
  • MACROD2:mono-ADP ribosylhydrolase 2 [Gene - OMIM - HGNC]
  • OTOR:otoraplin [Gene - OMIM - HGNC]
  • OVOL2:ovo like zinc finger 2 [Gene - OMIM - HGNC]
  • PCSK2:proprotein convertase subtilisin/kexin type 2 [Gene - OMIM - HGNC]
  • RRBP1:ribosome binding protein 1 [Gene - OMIM - HGNC]
  • SPTLC3:serine palmitoyltransferase long chain base subunit 3 [Gene - OMIM - HGNC]
  • SNRPB2:small nuclear ribonucleoprotein polypeptide B2 [Gene - OMIM - HGNC]
  • SNX5:sorting nexin 5 [Gene - OMIM - HGNC]
  • TASP1:taspase 1 [Gene - OMIM - HGNC]
  • ZNF133:zinc finger protein 133 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
20p12.2-11.23
Genomic location:
Chr20: 11702911 - 19179706 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 20p12.2-11.23(chr20:11702911-19179706)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002037165Illumina Laboratory Services, Illumina
    criteria provided, single submitter

    (ICSL CNVClassificationCriteria Aug2020)    		Uncertain significance
    (Dec 14, 2020)     		unknownclinical testing

    PubMed (2)
    [See all records that cite these PMIDs]

    Citation Link

    Help

    Summary from all submissions

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

    Citations

    PubMed

    A copy number variation morbidity map of developmental delay.

    Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, et al.

    Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Erratum in: Nat Genet. 2014 Sep;46(9):1040.

    PubMed [citation]
    PMID:
    21841781
    PMCID:
    PMC3171215

    The Database of Genomic Variants: a curated collection of structural variation in the human genome.

    MacDonald JR, Ziman R, Yuen RK, Feuk L, Scherer SW.

    Nucleic Acids Res. 2014 Jan;42(Database issue):D986-92. doi: 10.1093/nar/gkt958. Epub 2013 Oct 29.

    PubMed [citation]
    PMID:
    24174537
    PMCID:
    PMC3965079

    Details of each submission

    From Illumina Laboratory Services, Illumina, SCV002037165.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (2)

    Description

    This CNV is an inherited heterozygous ~7.5 Mb duplication on chromosome 20 of 20p12.2- p11.23, (seq[GRCh37]dup(20)(p12.2p11.23); chr20:g.11702911_19179706dup). This event encompasses over 45 genes, including 30 protein-coding genes. However, no genes in this this interval are currently known to be dosage-sensitive. Individuals with similar gains have not been reported in the peer-reviewed literature nor are they reported in control populations from the Database of Genomic Variants or the Developmental Delay controls (Cooper et al. 2011; MacDonald et al. 2014). A similar event is reported in an unpublished, symptomatic individual referred for chromosomal microarray testing in a ClinVar submission, however phenotypic and inheritance data are unavailable for this case (Variation ID: 625735, Accession: VCV000625735.1, Last evaluated: Nov 1, 2018). Based on the limited evidence, this CNV is classified as a variant of uncertain significance.

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

    Last Updated: Sep 1, 2024