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GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
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:
RCV002285055.1

Allele description [Variation Report for GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1]

GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1

Genes:
  • ATAD3A:ATPase family AAA domain containing 3A [Gene - OMIM - HGNC]
  • ATAD3B:ATPase family AAA domain containing 3B [Gene - OMIM - HGNC]
  • ATAD3C:ATPase family AAA domain containing 3C [Gene - OMIM - HGNC]
  • ACAP3:ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 [Gene - HGNC]
  • C1QTNF12:C1q and TNF related 12 [Gene - OMIM - HGNC]
  • FAAP20:FA core complex associated protein 20 [Gene - OMIM - HGNC]
  • GNB1:G protein subunit beta 1 [Gene - OMIM - HGNC]
  • ISG15:ISG15 ubiquitin like modifier [Gene - OMIM - HGNC]
  • MIB2:MIB E3 ubiquitin protein ligase 2 [Gene - OMIM - HGNC]
  • MORN1:MORN repeat containing 1 [Gene - HGNC]
  • NADK:NAD kinase [Gene - OMIM - HGNC]
  • NOC2L:NOC2 like nucleolar associated transcriptional repressor [Gene - OMIM - HGNC]
  • SKI:SKI proto-oncogene [Gene - OMIM - HGNC]
  • SSU72:SSU72 homolog, RNA polymerase II CTD phosphatase [Gene - OMIM - HGNC]
  • TNFRSF14:TNF receptor superfamily member 14 [Gene - OMIM - HGNC]
  • TNFRSF18:TNF receptor superfamily member 18 [Gene - OMIM - HGNC]
  • TNFRSF4:TNF receptor superfamily member 4 [Gene - OMIM - HGNC]
  • AGRN:agrin [Gene - OMIM - HGNC]
  • ANKRD65:ankyrin repeat domain 65 [Gene - HGNC]
  • AURKAIP1:aurora kinase A interacting protein 1 [Gene - OMIM - HGNC]
  • B3GALT6:beta-1,3-galactosyltransferase 6 [Gene - OMIM - HGNC]
  • CALML6:calmodulin like 6 [Gene - OMIM - HGNC]
  • CPTP:ceramide-1-phosphate transfer protein [Gene - OMIM - HGNC]
  • C1orf159:chromosome 1 open reading frame 159 [Gene - HGNC]
  • CFAP74:cilia and flagella associated protein 74 [Gene - OMIM - HGNC]
  • CCNL2:cyclin L2 [Gene - OMIM - HGNC]
  • CDK11A:cyclin dependent kinase 11A [Gene - OMIM - HGNC]
  • CDK11B:cyclin dependent kinase 11B [Gene - OMIM - HGNC]
  • DVL1:dishevelled segment polarity protein 1 [Gene - OMIM - HGNC]
  • FNDC10:fibronectin type III domain containing 10 [Gene - HGNC]
  • GABRD:gamma-aminobutyric acid type A receptor subunit delta [Gene - OMIM - HGNC]
  • HES4:hes family bHLH transcription factor 4 [Gene - OMIM - HGNC]
  • HES5:hes family bHLH transcription factor 5 [Gene - OMIM - HGNC]
  • INTS11:integrator complex subunit 11 [Gene - OMIM - HGNC]
  • KLHL17:kelch like family member 17 [Gene - OMIM - HGNC]
  • MMP23B:matrix metallopeptidase 23B [Gene - OMIM - HGNC]
  • MXRA8:matrix remodeling associated 8 [Gene - OMIM - HGNC]
  • MIR200A:microRNA 200a [Gene - OMIM - HGNC]
  • MIR200B:microRNA 200b [Gene - OMIM - HGNC]
  • MIR429:microRNA 429 [Gene - OMIM - HGNC]
  • MRPL20:mitochondrial ribosomal protein L20 [Gene - OMIM - HGNC]
  • PANK4:pantothenate kinase 4 (inactive) [Gene - OMIM - HGNC]
  • PRXL2B:peroxiredoxin like 2B [Gene - HGNC]
  • PEX10:peroxisomal biogenesis factor 10 [Gene - OMIM - HGNC]
  • PLCH2:phospholipase C eta 2 [Gene - OMIM - HGNC]
  • PLEKHN1:pleckstrin homology domain containing N1 [Gene - HGNC]
  • PRKCZ:protein kinase C zeta [Gene - OMIM - HGNC]
  • PUSL1:pseudouridine synthase like 1 [Gene - HGNC]
  • RER1:retention in endoplasmic reticulum sorting receptor 1 [Gene - OMIM - HGNC]
  • RNF223:ring finger protein 223 [Gene - HGNC]
  • SCNN1D:sodium channel epithelial 1 subunit delta [Gene - OMIM - HGNC]
  • SLC35E2A:solute carrier family 35 member E2A [Gene - HGNC]
  • SLC35E2B:solute carrier family 35 member E2B [Gene - OMIM - HGNC]
  • SAMD11:sterile alpha motif domain containing 11 [Gene - OMIM - HGNC]
  • SDF4:stromal cell derived factor 4 [Gene - OMIM - HGNC]
  • TAS1R3:taste 1 receptor member 3 [Gene - OMIM - HGNC]
  • TMEM240:transmembrane protein 240 [Gene - OMIM - HGNC]
  • TMEM52:transmembrane protein 52 [Gene - HGNC]
  • TMEM88B:transmembrane protein 88B [Gene - HGNC]
  • TTLL10:tubulin tyrosine ligase like 10 [Gene - HGNC]
  • UBE2J2:ubiquitin conjugating enzyme E2 J2 [Gene - OMIM - HGNC]
  • VWA1:von Willebrand factor A domain containing 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.33-36.32
Genomic location:
Chr1: 849466 - 2518608 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 1p36.33-36.32(chr1:849466-2518608)x1
HGVS:

    Condition(s)

    Name:
    See cases [See the Variation display for details]
    Identifiers:

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV002571731Cytogenetics, Genetics Associates, Inc.
    no assertion criteria provided
    Pathogenicunknownclinical testing

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

    Details of each submission

    From Cytogenetics, Genetics Associates, Inc., SCV002571731.1

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

    Last Updated: Mar 26, 2023