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GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 11, 2019
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:
RCV001258590.1

Allele description [Variation Report for GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3]

GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)x3

Genes:
  • CHRFAM7A:CHRNA7 (exons 5-10) and FAM7A (exons A-E) fusion [Gene - OMIM - HGNC]
  • EMC7:ER membrane protein complex subunit 7 [Gene - HGNC]
  • FAN1:FANCD2 and FANCI associated nuclease 1 [Gene - OMIM - HGNC]
  • KLF13:KLF transcription factor 13 [Gene - OMIM - HGNC]
  • NSMCE3:NSE3 homolog, SMC5-SMC6 complex component [Gene - OMIM - HGNC]
  • OTUD7A:OTU deubiquitinase 7A [Gene - OMIM - HGNC]
  • ARHGAP11A:Rho GTPase activating protein 11A [Gene - OMIM - HGNC]
  • ARHGAP11B:Rho GTPase activating protein 11B [Gene - OMIM - HGNC]
  • APBA2:amyloid beta precursor protein binding family A member 2 [Gene - OMIM - HGNC]
  • AVEN:apoptosis and caspase activation inhibitor [Gene - OMIM - HGNC]
  • CHRM5:cholinergic receptor muscarinic 5 [Gene - OMIM - HGNC]
  • CHRNA7:cholinergic receptor nicotinic alpha 7 subunit [Gene - OMIM - HGNC]
  • ENTREP2:endosomal transmembrane epsin interactor 2 [Gene - OMIM - HGNC]
  • GOLGA8H:golgin A8 family member H [Gene - HGNC]
  • GOLGA8J:golgin A8 family member J [Gene - HGNC]
  • GOLGA8M:golgin A8 family member M [Gene - HGNC]
  • GOLGA8N:golgin A8 family member N [Gene - HGNC]
  • GOLGA8O:golgin A8 family member O [Gene - HGNC]
  • GREM1:gremlin 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • KATNBL1:katanin regulatory subunit B1 like 1 [Gene - OMIM - HGNC]
  • MIR211:microRNA 211 [Gene - OMIM - HGNC]
  • MTMR10:myotubularin related protein 10 [Gene - HGNC]
  • PGBD4:piggyBac transposable element derived 4 [Gene - HGNC]
  • RYR3:ryanodine receptor 3 [Gene - OMIM - HGNC]
  • SCG5:secretogranin V [Gene - OMIM - HGNC]
  • TJP1:tight junction protein 1 [Gene - OMIM - HGNC]
  • TRPM1:transient receptor potential cation channel subfamily M member 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q13.1-14
Genomic location:
Chr15: 28709714 - 34506805 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q13.1-14(chr15:28709714-34506805)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
    SCV001435559Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Likely pathogenic
    (Sep 11, 2019)
    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, SCV001435559.1

    #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