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GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1 AND See cases

Germline classification:
Uncertain significance (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:
RCV002292710.1

Allele description [Variation Report for GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1]

GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)x1

Genes:
  • NT5E:5'-nucleotidase ecto [Gene - OMIM - HGNC]
  • HTR1E:5-hydroxytryptamine receptor 1E [Gene - OMIM - HGNC]
  • BACH2:BTB domain and CNC homolog 2 [Gene - OMIM - HGNC]
  • DOP1A:DOP1 leucine zipper like protein A [Gene - OMIM - HGNC]
  • ELOVL4:ELOVL fatty acid elongase 4 [Gene - OMIM - HGNC]
  • EPHA7:EPH receptor A7 [Gene - OMIM - HGNC]
  • GPR63:G protein-coupled receptor 63 [Gene - OMIM - HGNC]
  • LYRM2:LYR motif containing 2 [Gene - HGNC]
  • MMS22L:MMS22 like, DNA repair protein [Gene - OMIM - HGNC]
  • NDUFAF4:NADH:ubiquinone oxidoreductase complex assembly factor 4 [Gene - OMIM - HGNC]
  • RNGTT:RNA guanylyltransferase and 5'-phosphatase [Gene - OMIM - HGNC]
  • RWDD2A:RWD domain containing 2A [Gene - HGNC]
  • RRAGD:Ras related GTP binding D [Gene - OMIM - HGNC]
  • SH3BGRL2:SH3 domain binding glutamate rich protein like 2 [Gene - OMIM - HGNC]
  • TBX18:T-box transcription factor 18 [Gene - OMIM - HGNC]
  • TTK:TTK protein kinase [Gene - OMIM - HGNC]
  • UFL1:UFM1 specific ligase 1 [Gene - OMIM - HGNC]
  • AKIRIN2:akirin 2 [Gene - OMIM - HGNC]
  • ANKRD6:ankyrin repeat domain 6 [Gene - OMIM - HGNC]
  • RARS2:arginyl-tRNA synthetase 2, mitochondrial [Gene - OMIM - HGNC]
  • BCKDHB:branched chain keto acid dehydrogenase E1 subunit beta [Gene - OMIM - HGNC]
  • CNR1:cannabinoid receptor 1 [Gene - OMIM - HGNC]
  • CASP8AP2:caspase 8 associated protein 2 [Gene - OMIM - HGNC]
  • CEP162:centrosomal protein 162 [Gene - OMIM - HGNC]
  • C6orf163:chromosome 6 open reading frame 163 [Gene - HGNC]
  • CFAP206:cilia and flagella associated protein 206 [Gene - HGNC]
  • CYB5R4:cytochrome b5 reductase 4 [Gene - OMIM - HGNC]
  • FHL5:four and a half LIM domains 5 [Gene - OMIM - HGNC]
  • FUT9:fucosyltransferase 9 [Gene - OMIM - HGNC]
  • GABRR1:gamma-aminobutyric acid type A receptor subunit rho1 [Gene - OMIM - HGNC]
  • GABRR2:gamma-aminobutyric acid type A receptor subunit rho2 [Gene - OMIM - HGNC]
  • GJA10:gap junction protein alpha 10 [Gene - OMIM - HGNC]
  • GJB7:gap junction protein beta 7 [Gene - OMIM - HGNC]
  • CGA:glycoprotein hormones, alpha polypeptide [Gene - OMIM - HGNC]
  • HMGN3:high mobility group nucleosomal binding domain 3 [Gene - OMIM - HGNC]
  • IBTK:inhibitor of Bruton tyrosine kinase [Gene - OMIM - HGNC]
  • IRAK1BP1:interleukin 1 receptor associated kinase 1 binding protein 1 [Gene - OMIM - HGNC]
  • KLHL32:kelch like family member 32 [Gene - HGNC]
  • LCA5:lebercilin LCA5 [Gene - OMIM - HGNC]
  • LINC01621:long intergenic non-protein coding RNA 1621 [Gene - HGNC]
  • ME1:malic enzyme 1 [Gene - OMIM - HGNC]
  • MANEA:mannosidase endo-alpha [Gene - OMIM - HGNC]
  • MRAP2:melanocortin 2 receptor accessory protein 2 [Gene - OMIM - HGNC]
  • MDN1:midasin AAA ATPase 1 [Gene - OMIM - HGNC]
  • MAP3K7:mitogen-activated protein kinase kinase kinase 7 [Gene - OMIM - HGNC]
  • ORC3:origin recognition complex subunit 3 [Gene - OMIM - HGNC]
  • PM20D2:peptidase M20 domain containing 2 [Gene - OMIM - HGNC]
  • PGM3:phosphoglucomutase 3 [Gene - OMIM - HGNC]
  • PHIP:pleckstrin homology domain interacting protein [Gene - OMIM - HGNC]
  • PNRC1:proline rich nuclear receptor coactivator 1 [Gene - OMIM - HGNC]
  • RIPPLY2:ripply transcriptional repressor 2 [Gene - OMIM - HGNC]
  • SRSF12:serine and arginine rich splicing factor 12 [Gene - HGNC]
  • PRSS35:serine protease 35 [Gene - HGNC]
  • SMIM8:small integral membrane protein 8 [Gene - HGNC]
  • SNHG5:small nucleolar RNA host gene 5 [Gene - OMIM - HGNC]
  • SNORD50A:small nucleolar RNA, C/D box 50A [Gene - OMIM - HGNC]
  • SNORD50B:small nucleolar RNA, C/D box 50B [Gene - OMIM - HGNC]
  • SLC35A1:solute carrier family 35 member A1 [Gene - OMIM - HGNC]
  • SNX14:sorting nexin 14 [Gene - OMIM - HGNC]
  • SPACA1:sperm acrosome associated 1 [Gene - OMIM - HGNC]
  • SNAP91:synaptosome associated protein 91 [Gene - OMIM - HGNC]
  • SYNCRIP:synaptotagmin binding cytoplasmic RNA interacting protein [Gene - OMIM - HGNC]
  • TENT5A:terminal nucleotidyltransferase 5A [Gene - OMIM - HGNC]
  • TPBG:trophoblast glycoprotein [Gene - OMIM - HGNC]
  • UBE2J1:ubiquitin conjugating enzyme E2 J1 [Gene - OMIM - HGNC]
  • UBE3D:ubiquitin protein ligase E3D [Gene - OMIM - HGNC]
  • ZNF292:zinc finger protein 292 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q14.1-16.1
Genomic location:
Chr6: 78911022 - 98909173 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 6q14.1-16.1(chr6:78911022-98909173)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
    SCV002584958Cytogenetics, Genetics Associates, Inc.
    no assertion criteria provided
    Uncertain significanceunknownclinical 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., SCV002584958.1

    #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