GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 6, 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:
RCV003484758.1

Allele description [Variation Report for GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3]

GRCh37/hg19 8q24.3(chr8:145080420-146258478)x3

Genes:
  • OPLAH:5-oxoprolinase, ATP-hydrolysing [Gene - OMIM - HGNC]
  • BOP1:BOP1 ribosomal biogenesis factor [Gene - OMIM - HGNC]
  • COMMD5:COMM domain containing 5 [Gene - OMIM - HGNC]
  • FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]
  • HGH1:HGH1 homolog [Gene - OMIM - HGNC]
  • MAF1:MAF1 homolog, negative regulator of RNA polymerase III [Gene - OMIM - HGNC]
  • RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
  • ARHGAP39:Rho GTPase activating protein 39 [Gene - OMIM - HGNC]
  • SHARPIN:SHANK associated RH domain interactor [Gene - OMIM - HGNC]
  • VPS28:VPS28 subunit of ESCRT-I [Gene - OMIM - HGNC]
  • ADCK5:aarF domain containing kinase 5 [Gene - HGNC]
  • C8orf82:chromosome 8 open reading frame 82 [Gene - HGNC]
  • CPSF1:cleavage and polyadenylation specific factor 1 [Gene - OMIM - HGNC]
  • CYC1:cytochrome c1 [Gene - OMIM - HGNC]
  • DGAT1:diacylglycerol O-acyltransferase 1 [Gene - OMIM - HGNC]
  • EXOSC4:exosome component 4 [Gene - OMIM - HGNC]
  • FOXH1:forkhead box H1 [Gene - OMIM - HGNC]
  • GPT:glutamic--pyruvic transaminase [Gene - OMIM - HGNC]
  • GPAA1:glycosylphosphatidylinositol anchor attachment 1 [Gene - OMIM - HGNC]
  • HSF1:heat shock transcription factor 1 [Gene - OMIM - HGNC]
  • KIFC2:kinesin family member C2 [Gene - OMIM - HGNC]
  • LRRC14:leucine rich repeat containing 14 [Gene - OMIM - HGNC]
  • LRRC24:leucine rich repeat containing 24 [Gene - OMIM - HGNC]
  • MROH1:maestro heat like repeat family member 1 [Gene - HGNC]
  • MFSD3:major facilitator superfamily domain containing 3 [Gene - OMIM - HGNC]
  • MIR1234:microRNA 1234 [Gene - HGNC]
  • PPP1R16A:protein phosphatase 1 regulatory subunit 16A [Gene - OMIM - HGNC]
  • RPL8:ribosomal protein L8 [Gene - OMIM - HGNC]
  • SCX:scleraxis bHLH transcription factor [Gene - OMIM - HGNC]
  • SCRT1:scratch family transcriptional repressor 1 [Gene - OMIM - HGNC]
  • SLC39A4:solute carrier family 39 member 4 [Gene - OMIM - HGNC]
  • SLC52A2:solute carrier family 52 member 2 [Gene - OMIM - HGNC]
  • SPATC1:spermatogenesis and centriole associated 1 [Gene - OMIM - HGNC]
  • TONSL:tonsoku like, DNA repair protein [Gene - OMIM - HGNC]
  • TMEM249:transmembrane protein 249 [Gene - HGNC]
  • ZFTRAF1:zinc finger TRAF-type containing 1 [Gene - OMIM - HGNC]
  • ZNF16:zinc finger protein 16 [Gene - OMIM - HGNC]
  • ZNF250:zinc finger protein 250 [Gene - HGNC]
  • ZNF251:zinc finger protein 251 [Gene - HGNC]
  • ZNF34:zinc finger protein 34 [Gene - OMIM - HGNC]
  • ZNF517:zinc finger protein 517 [Gene - HGNC]
  • ZNF7:zinc finger protein 7 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q24.3
Genomic location:
Chr8: 145080420 - 146258478 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q24.3(chr8:145080420-146258478)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
    SCV004230619Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Uncertain significance
    (Aug 6, 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, SCV004230619.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Feb 4, 2024