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GRCh37/hg19 1p12(chr1:119425396-120523902)x3 AND not specified

Germline classification:
Uncertain significance (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:
RCV003987150.1

Allele description [Variation Report for GRCh37/hg19 1p12(chr1:119425396-120523902)x3]

GRCh37/hg19 1p12(chr1:119425396-120523902)x3

Genes:
  • HMGCS2:3-hydroxy-3-methylglutaryl-CoA synthase 2 [Gene - OMIM - HGNC]
  • ADAM30:ADAM metallopeptidase domain 30 [Gene - OMIM - HGNC]
  • TBX15:T-box transcription factor 15 [Gene - OMIM - HGNC]
  • HSD3B1:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 [Gene - OMIM - HGNC]
  • HSD3B2:hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 [Gene - OMIM - HGNC]
  • HAO2:hydroxyacid oxidase 2 [Gene - OMIM - HGNC]
  • NOTCH2:notch receptor 2 [Gene - OMIM - HGNC]
  • PHGDH:phosphoglycerate dehydrogenase [Gene - OMIM - HGNC]
  • REG4:regenerating family member 4 [Gene - OMIM - HGNC]
  • WARS2:tryptophanyl tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • ZNF697:zinc finger protein 697 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p12
Genomic location:
Chr1: 119425396 - 120523902 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p12(chr1:119425396-120523902)x3
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
    SCV004802082ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)    		Uncertain significancegermlineclinical 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, SCV004802082.1

    #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