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GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 24, 2019
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:
RCV001259226.1

Allele description [Variation Report for GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3]

GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)x3

Genes:
  • ATP6V1A:ATPase H+ transporting V1 subunit A [Gene - OMIM - HGNC]
  • BTLA:B and T lymphocyte associated [Gene - OMIM - HGNC]
  • BOC:BOC cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CD200R1L:CD200 receptor 1 like [Gene - HGNC]
  • CD200R1:CD200 receptor 1 [Gene - OMIM - HGNC]
  • GRAMD1C:GRAM domain containing 1C [Gene - HGNC]
  • GTPBP8:GTP binding protein 8 (putative) [Gene - HGNC]
  • NAA50:N-alpha-acetyltransferase 50, NatE catalytic subunit [Gene - OMIM - HGNC]
  • SIDT1:SID1 transmembrane family member 1 [Gene - OMIM - HGNC]
  • TIGIT:T cell immunoreceptor with Ig and ITIM domains [Gene - OMIM - HGNC]
  • ATG3:autophagy related 3 [Gene - OMIM - HGNC]
  • CFAP44:cilia and flagella associated protein 44 [Gene - OMIM - HGNC]
  • CCDC191:coiled-coil domain containing 191 [Gene - HGNC]
  • CCDC80:coiled-coil domain containing 80 [Gene - OMIM - HGNC]
  • DRD3:dopamine receptor D3 [Gene - OMIM - HGNC]
  • GAP43:growth associated protein 43 [Gene - OMIM - HGNC]
  • NEPRO:nucleolus and neural progenitor protein [Gene - OMIM - HGNC]
  • QTRT2:queuine tRNA-ribosyltransferase accessory subunit 2 [Gene - HGNC]
  • SLC35A5:solute carrier family 35 member A5 [Gene - HGNC]
  • SPICE1:spindle and centriole associated protein 1 [Gene - OMIM - HGNC]
  • USF3:upstream transcription factor family member 3 [Gene - OMIM - HGNC]
  • ZDHHC23:zinc finger DHHC-type palmitoyltransferase 23 [Gene - OMIM - HGNC]
  • ZBTB20:zinc finger and BTB domain containing 20 [Gene - OMIM - HGNC]
  • ZNF80:zinc finger protein 80 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3q13.2-13.31
Genomic location:
Chr3: 112135341 - 115509260 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3q13.2-13.31(chr3:112135341-115509260)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
    SCV001436195Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    		Pathogenic
    (Sep 24, 2019)     		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, SCV001436195.1

    #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: Apr 23, 2022