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GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
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:
RCV002293966.1

Allele description [Variation Report for GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3]

GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3

Genes:
  • EMC4:ER membrane protein complex subunit 4 [Gene - OMIM - HGNC]
  • EMC7:ER membrane protein complex subunit 7 [Gene - HGNC]
  • NOP10:NOP10 ribonucleoprotein [Gene - OMIM - HGNC]
  • NUTM1:NUT midline carcinoma family member 1 [Gene - OMIM - HGNC]
  • ARHGAP11A:Rho GTPase activating protein 11A [Gene - OMIM - HGNC]
  • AVEN:apoptosis and caspase activation inhibitor [Gene - OMIM - HGNC]
  • CHRM5:cholinergic receptor muscarinic 5 [Gene - OMIM - HGNC]
  • GOLGA8A:golgin A8 family member A [Gene - OMIM - HGNC]
  • GREM1:gremlin 1, DAN family BMP antagonist [Gene - OMIM - HGNC]
  • KATNBL1:katanin regulatory subunit B1 like 1 [Gene - OMIM - HGNC]
  • LPCAT4:lysophosphatidylcholine acyltransferase 4 [Gene - OMIM - HGNC]
  • PGBD4:piggyBac transposable element derived 4 [Gene - HGNC]
  • RYR3:ryanodine receptor 3 [Gene - OMIM - HGNC]
  • SCG5:secretogranin V [Gene - OMIM - HGNC]
  • SLC12A6:solute carrier family 12 member 6 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q13.3-14
Genomic location:
Chr15: 32915722 - 34671601 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q13.3-14(chr15:32915722-34671601)x3
HGVS:

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002586378Cytogenetics, Genetics Associates, Inc.
    no assertion criteria provided
    		Pathogenicunknownclinical testing

    Help

    Summary from all submissions

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

    Details of each submission

    From Cytogenetics, Genetics Associates, Inc., SCV002586378.1

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

    Last Updated: Oct 29, 2022