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GRCh37/hg19 17p12(chr17:14110127-15472344)x1 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2022
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:
RCV002511889.14

Allele description [Variation Report for GRCh37/hg19 17p12(chr17:14110127-15472344)x1]

GRCh37/hg19 17p12(chr17:14110127-15472344)x1

Genes:
  • CDRT15:CMT1A duplicated region transcript 15 [Gene - HGNC]
  • CDRT4:CMT1A duplicated region transcript 4 [Gene - HGNC]
  • TVP23C-CDRT4:TVP23C-CDRT4 readthrough [Gene - HGNC]
  • COX10:cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [Gene - OMIM - HGNC]
  • HS3ST3B1:heparan sulfate-glucosamine 3-sulfotransferase 3B1 [Gene - OMIM - HGNC]
  • PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
  • TEKT3:tektin 3 [Gene - OMIM - HGNC]
  • TVP23C:trans-golgi network vesicle protein 23 homolog C [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
17p12
Genomic location:
Chr17: 14110127 - 15472344 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17p12(chr17:14110127-15472344)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: C3661900

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV002822443CeGaT Center for Human Genetics Tuebingen
    criteria provided, single submitter

    (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)    		Pathogenic
    (Nov 1, 2022)     		germlineclinical testing

    Citation Link

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedclinical testing

    Details of each submission

    From CeGaT Center for Human Genetics Tuebingen, SCV002822443.14

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

    Last Updated: Oct 20, 2024