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GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 8, 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:
RCV002472393.1

Allele description [Variation Report for GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3]

GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3

Genes:
  • PFKFB3:6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 [Gene - OMIM - HGNC]
  • ATP5F1C:ATP synthase F1 subunit gamma [Gene - OMIM - HGNC]
  • CALML3-AS1:CALML3 antisense RNA 1 [Gene - HGNC]
  • CELF2:CUGBP Elav-like family member 2 [Gene - OMIM - HGNC]
  • FBH1:F-box DNA helicase 1 [Gene - OMIM - HGNC]
  • GATA3:GATA binding protein 3 [Gene - OMIM - HGNC]
  • GDI2:GDP dissociation inhibitor 2 [Gene - OMIM - HGNC]
  • GTPBP4:GTP binding protein 4 [Gene - OMIM - HGNC]
  • KLF6:KLF transcription factor 6 [Gene - OMIM - HGNC]
  • KIN:Kin17 DNA and RNA binding protein [Gene - OMIM - HGNC]
  • LARP4B:La ribonucleoprotein 4B [Gene - OMIM - HGNC]
  • RBM17:RNA binding motif protein 17 [Gene - OMIM - HGNC]
  • SEC61A2:SEC61 translocon subunit alpha 2 [Gene - OMIM - HGNC]
  • SFMBT2:Scm like with four mbt domains 2 [Gene - OMIM - HGNC]
  • TAF3:TATA-box binding protein associated factor 3 [Gene - OMIM - HGNC]
  • UPF2:UPF2 regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]
  • USP6NL:USP6 N-terminal like [Gene - OMIM - HGNC]
  • WDR37:WD repeat domain 37 [Gene - OMIM - HGNC]
  • ADARB2:adenosine deaminase RNA specific B2 (inactive) [Gene - OMIM - HGNC]
  • AKR1C1:aldo-keto reductase family 1 member C1 [Gene - OMIM - HGNC]
  • AKR1C2:aldo-keto reductase family 1 member C2 [Gene - OMIM - HGNC]
  • AKR1C3:aldo-keto reductase family 1 member C3 [Gene - OMIM - HGNC]
  • AKR1C4:aldo-keto reductase family 1 member C4 [Gene - OMIM - HGNC]
  • AKR1E2:aldo-keto reductase family 1 member E2 [Gene - OMIM - HGNC]
  • ASB13:ankyrin repeat and SOCS box containing 13 [Gene - OMIM - HGNC]
  • ANKRD16:ankyrin repeat domain 16 [Gene - OMIM - HGNC]
  • CAMK1D:calcium/calmodulin dependent protein kinase ID [Gene - OMIM - HGNC]
  • CALML3:calmodulin like 3 [Gene - OMIM - HGNC]
  • CALML5:calmodulin like 5 [Gene - OMIM - HGNC]
  • CDC123:cell division cycle 123 [Gene - OMIM - HGNC]
  • DHTKD1:dehydrogenase E1 and transketolase domain containing 1 [Gene - OMIM - HGNC]
  • DIP2C:disco interacting protein 2 homolog C [Gene - OMIM - HGNC]
  • ECHDC3:enoyl-CoA hydratase domain containing 3 [Gene - HGNC]
  • ITIH2:inter-alpha-trypsin inhibitor heavy chain 2 [Gene - OMIM - HGNC]
  • ITIH5:inter-alpha-trypsin inhibitor heavy chain 5 [Gene - OMIM - HGNC]
  • IL15RA:interleukin 15 receptor subunit alpha [Gene - OMIM - HGNC]
  • IL2RA:interleukin 2 receptor subunit alpha [Gene - OMIM - HGNC]
  • IDI1:isopentenyl-diphosphate delta isomerase 1 [Gene - OMIM - HGNC]
  • IDI2:isopentenyl-diphosphate delta isomerase 2 [Gene - OMIM - HGNC]
  • NET1:neuroepithelial cell transforming 1 [Gene - OMIM - HGNC]
  • NUDT5:nudix hydrolase 5 [Gene - OMIM - HGNC]
  • PFKP:phosphofructokinase, platelet [Gene - OMIM - HGNC]
  • PITRM1:pitrilysin metallopeptidase 1 [Gene - OMIM - HGNC]
  • PROSER2:proline and serine rich 2 [Gene - HGNC]
  • PRKCQ:protein kinase C theta [Gene - OMIM - HGNC]
  • TASOR2:transcription activation suppressor family member 2 [Gene - HGNC]
  • TUBAL3:tubulin alpha like 3 [Gene - HGNC]
  • UCN3:urocortin 3 [Gene - OMIM - HGNC]
  • ZMYND11:zinc finger MYND-type containing 11 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
10p15.3-13
Genomic location:
Chr10: 100027 - 12648149 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002772261Quest Diagnostics Nichols Institute San Juan Capistrano
    criteria provided, single submitter

    (ACMG/ClinGen CNV Guidelines, 2019)    		Uncertain significance
    (Dec 8, 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, SCV002772261.1

    #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: Dec 31, 2022