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GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 5, 2020
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV001259512.1

Allele description [Variation Report for GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3]

GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3

Genes:
  • FBXL6:F-box and leucine rich repeat protein 6 [Gene - OMIM - HGNC]
  • RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]
  • ARHGAP39:Rho GTPase activating protein 39 [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]
  • FOXH1:forkhead box H1 [Gene - OMIM - HGNC]
  • GPT:glutamic--pyruvic transaminase [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 - HGNC]
  • MFSD3:major facilitator superfamily domain containing 3 [Gene - HGNC]
  • MIR1234:microRNA 1234 [Gene - HGNC]
  • PPP1R16A:protein phosphatase 1 regulatory subunit 16A [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]
  • 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]
Variant type:
copy number gain
Cytogenetic location:
8q24.3
Genomic location:
Chr8: 145555125 - 145779806 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q24.3(chr8:145555125-145779806)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV001436481Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Uncertain significance
    (Mar 5, 2020)
    germlineclinical testing

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001436481.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Mar 26, 2023