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GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3 AND not provided

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jun 5, 2018
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:
RCV001005079.1

Allele description [Variation Report for GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3]

GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3

Genes:
  • BSDC1:BSD domain containing 1 [Gene - OMIM - HGNC]
  • CSMD2:CUB and Sushi multiple domains 2 [Gene - OMIM - HGNC]
  • IQCC:IQ motif containing C [Gene - HGNC]
  • KHDRBS1:KH RNA binding domain containing, signal transduction associated 1 [Gene - OMIM - HGNC]
  • KIAA1522:KIAA1522 [Gene - HGNC]
  • LCK:LCK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • MARCKSL1:MARCKS like 1 [Gene - OMIM - HGNC]
  • RBBP4:RB binding protein 4, chromatin remodeling factor [Gene - OMIM - HGNC]
  • S100PBP:S100P binding protein [Gene - OMIM - HGNC]
  • SPOCD1:SPOC domain containing 1 [Gene - OMIM - HGNC]
  • AK2:adenylate kinase 2 [Gene - OMIM - HGNC]
  • ADGRB2:adhesion G protein-coupled receptor B2 [Gene - OMIM - HGNC]
  • A3GALT2:alpha 1,3-galactosyltransferase 2 [Gene - OMIM - HGNC]
  • AZIN2:antizyme inhibitor 2 [Gene - OMIM - HGNC]
  • CCDC28B:coiled-coil domain containing 28B [Gene - OMIM - HGNC]
  • COL16A1:collagen type XVI alpha 1 chain [Gene - OMIM - HGNC]
  • DCDC2B:doublecortin domain containing 2B [Gene - HGNC]
  • EIF3I:eukaryotic translation initiation factor 3 subunit I [Gene - OMIM - HGNC]
  • FAM167B:family with sequence similarity 167 member B [Gene - HGNC]
  • FAM229A:family with sequence similarity 229 member A [Gene - HGNC]
  • FABP3:fatty acid binding protein 3 [Gene - OMIM - HGNC]
  • FNDC5:fibronectin type III domain containing 5 [Gene - OMIM - HGNC]
  • HMGB4:high mobility group box 4 [Gene - OMIM - HGNC]
  • HPCA:hippocalcin [Gene - OMIM - HGNC]
  • HDAC1:histone deacetylase 1 [Gene - OMIM - HGNC]
  • HCRTR1:hypocretin receptor 1 [Gene - OMIM - HGNC]
  • KPNA6:karyopherin subunit alpha 6 [Gene - OMIM - HGNC]
  • LAPTM5:lysosomal protein transmembrane 5 [Gene - OMIM - HGNC]
  • MATN1:matrilin 1 [Gene - OMIM - HGNC]
  • PEF1:penta-EF-hand domain containing 1 [Gene - OMIM - HGNC]
  • PHC2:polyhomeotic homolog 2 [Gene - OMIM - HGNC]
  • PTP4A2:protein tyrosine phosphatase 4A2 [Gene - OMIM - HGNC]
  • PUM1:pumilio RNA binding family member 1 [Gene - OMIM - HGNC]
  • RNF19B:ring finger protein 19B [Gene - OMIM - HGNC]
  • SERINC2:serine incorporator 2 [Gene - OMIM - HGNC]
  • SNRNP40:small nuclear ribonucleoprotein U5 subunit 40 [Gene - OMIM - HGNC]
  • NKAIN1:sodium/potassium transporting ATPase interacting 1 [Gene - OMIM - HGNC]
  • SYNC:syncoilin, intermediate filament protein [Gene - OMIM - HGNC]
  • SDC3:syndecan 3 [Gene - OMIM - HGNC]
  • TXLNA:taxilin alpha [Gene - OMIM - HGNC]
  • TSSK3:testis specific serine kinase 3 [Gene - OMIM - HGNC]
  • TMEM234:transmembrane protein 234 [Gene - HGNC]
  • TMEM39B:transmembrane protein 39B [Gene - HGNC]
  • TMEM54:transmembrane protein 54 [Gene - HGNC]
  • TRIM62:tripartite motif containing 62 [Gene - OMIM - HGNC]
  • TINAGL1:tubulointerstitial nephritis antigen like 1 [Gene - OMIM - HGNC]
  • YARS1:tyrosyl-tRNA synthetase 1 [Gene - OMIM - HGNC]
  • ZCCHC17:zinc finger CCHC-type containing 17 [Gene - OMIM - HGNC]
  • ZBTB8OS:zinc finger and BTB domain containing 8 opposite strand [Gene - OMIM - HGNC]
  • ZBTB8A:zinc finger and BTB domain containing 8A [Gene - OMIM - HGNC]
  • ZBTB8B:zinc finger and BTB domain containing 8B [Gene - HGNC]
  • ZSCAN20:zinc finger and SCAN domain containing 20 [Gene - OMIM - HGNC]
  • ZNF362:zinc finger protein 362 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
1p35.2-35.1
Genomic location:
Chr1: 30819875 - 34380419 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p35.2-35.1(chr1:30819875-34380419)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV001164625Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Likely pathogenic
    (Jun 5, 2018)
    germlineclinical testing

    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, SCV001164625.1

    #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