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GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3 AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 23, 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:
RCV001258723.1

Allele description [Variation Report for GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3]

GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)x3

Genes:
  • ELOVL5:ELOVL fatty acid elongase 5 [Gene - OMIM - HGNC]
  • FBXO9:F-box protein 9 [Gene - OMIM - HGNC]
  • RN7SK:RNA component of 7SK nuclear ribonucleoprotein [Gene - OMIM - HGNC]
  • CILK1:ciliogenesis associated kinase 1 [Gene - OMIM - HGNC]
  • GCM1:glial cells missing transcription factor 1 [Gene - OMIM - HGNC]
  • GCLC:glutamate-cysteine ligase catalytic subunit [Gene - OMIM - HGNC]
  • GSTA1:glutathione S-transferase alpha 1 [Gene - OMIM - HGNC]
  • GSTA3:glutathione S-transferase alpha 3 [Gene - OMIM - HGNC]
  • GSTA4:glutathione S-transferase alpha 4 [Gene - OMIM - HGNC]
  • GSTA5:glutathione S-transferase alpha 5 [Gene - OMIM - HGNC]
  • KLHL31:kelch like family member 31 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
6p12.2-12.1
Genomic location:
Chr6: 52657712 - 53622715 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6p12.2-12.1(chr6:52657712-53622715)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
    SCV001435692Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Uncertain significance
    (Jan 23, 2020)     		germlineclinical testing

    Help

    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, SCV001435692.1

    #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