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GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1 AND not specified

Germline classification:
Pathogenic (1 submission)
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:
RCV003987217.1

Allele description [Variation Report for GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1]

GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1

Genes:
  • AKT3:AKT serine/threonine kinase 3 [Gene - OMIM - HGNC]
  • EFCAB2:EF-hand calcium binding domain 2 [Gene - OMIM - HGNC]
  • SDCCAG8:SHH signaling and ciliogenesis regulator SDCCAG8 [Gene - OMIM - HGNC]
  • ADSS2:adenylosuccinate synthase 2 [Gene - OMIM - HGNC]
  • CATSPERE:catsper channel auxiliary subunit epsilon [Gene - OMIM - HGNC]
  • COX20:cytochrome c oxidase assembly factor COX20 [Gene - OMIM - HGNC]
  • DESI2:desumoylating isopeptidase 2 [Gene - OMIM - HGNC]
  • HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]
  • KIF26B:kinesin family member 26B [Gene - OMIM - HGNC]
  • SPMIP3:sperm microtubule inner protein 3 [Gene - HGNC]
  • ZBTB18:zinc finger and BTB domain containing 18 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q43-44
Genomic location:
Chr1: 243453390 - 245467768 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1q43-44(chr1:243453390-245467768)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    AllHighlyPenetrant
    Identifiers:
    MedGen: CN169374

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV004802149ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)    		Pathogenicgermlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknown1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802149.1

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

    Last Updated: Mar 30, 2024