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GRCh37/hg19 1p32.2-32.1(chr1:58346207-59924256)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 3, 2019
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:
RCV001194535.1

Allele description [Variation Report for GRCh37/hg19 1p32.2-32.1(chr1:58346207-59924256)x3]

GRCh37/hg19 1p32.2-32.1(chr1:58346207-59924256)x3

Genes:
  • DAB1:DAB adaptor protein 1 [Gene - OMIM - HGNC]
  • FGGY:FGGY carbohydrate kinase domain containing [Gene - OMIM - HGNC]
  • JUN:Jun proto-oncogene, AP-1 transcription factor subunit [Gene - OMIM - HGNC]
  • MYSM1:Myb like, SWIRM and MPN domains 1 [Gene - OMIM - HGNC]
  • OMA1:OMA1 zinc metallopeptidase [Gene - OMIM - HGNC]
  • TACSTD2:tumor associated calcium signal transducer 2 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p32.2-32.1
Genomic location:
Chr1: 58346207 - 59924256 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p32.2-32.1(chr1:58346207-59924256)x3
HGVS:
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

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    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV001364171Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
    criteria provided, single submitter

    (Clinical Cytogenomics Laboratory Policy on CNV Interpretation)    		Uncertain significance
    (May 3, 2019)     		unknownclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownyes11not providednot providednot providedclinical testing

    Details of each submission

    From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001364171.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providedFetal tissuenot provided1not provided1not provided

    Last Updated: Apr 23, 2022