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GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 26, 2017
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:
RCV000849303.2

Allele description [Variation Report for GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3]

GRCh37/hg19 7q11.23(chr7:75076890-76007283)x3

Genes:
  • CCL24:C-C motif chemokine ligand 24 [Gene - OMIM - HGNC]
  • CCL26:C-C motif chemokine ligand 26 [Gene - OMIM - HGNC]
  • POM121C:POM121 transmembrane nucleoporin C [Gene - OMIM - HGNC]
  • POR:cytochrome p450 oxidoreductase [Gene - OMIM - HGNC]
  • HSPB1:heat shock protein family B (small) member 1 [Gene - OMIM - HGNC]
  • HIP1:huntingtin interacting protein 1 [Gene - OMIM - HGNC]
  • MDH2:malate dehydrogenase 2 [Gene - OMIM - HGNC]
  • RHBDD2:rhomboid domain containing 2 [Gene - OMIM - HGNC]
  • SRRM3:serine/arginine repetitive matrix 3 [Gene - HGNC]
  • STYXL1:serine/threonine/tyrosine interacting like 1 [Gene - OMIM - HGNC]
  • SPDYE5:speedy/RINGO cell cycle regulator family member E5 [Gene - HGNC]
  • TMEM120A:transmembrane protein 120A [Gene - OMIM - HGNC]
  • YWHAG:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
7q11.23
Genomic location:
Chr7: 75076890 - 76007283 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 7q11.23(chr7:75076890-76007283)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
    SCV000991445Bionano Laboratories
    no assertion criteria provided
    Uncertain significance
    (Apr 26, 2017)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Bionano Laboratories, SCV000991445.1

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

    Last Updated: Dec 11, 2022