GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1 AND not provided

Clinical significance:Pathogenic (Last evaluated: Sep 18, 2018)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000846367.1

Allele description [Variation Report for GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1]

GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1

Genes:
  • BANCR:BRAF-activated non-protein coding RNA [Gene - HGNC]
  • CARNMT1-AS1:CARNMT1 antisense RNA 1 [Gene - HGNC]
  • GNA14:G protein subunit alpha 14 [Gene - OMIM - HGNC]
  • GNAQ:G protein subunit alpha q [Gene - OMIM - HGNC]
  • KLF9:Kruppel like factor 9 [Gene - OMIM - HGNC]
  • MAMDC2:MAM domain containing 2 [Gene - OMIM - HGNC]
  • RORB:RAR related orphan receptor B [Gene - OMIM - HGNC]
  • ABHD17B:abhydrolase domain containing 17B [Gene - OMIM - HGNC]
  • ALDH1A1:aldehyde dehydrogenase 1 family member A1 [Gene - OMIM - HGNC]
  • APBA1:amyloid beta precursor protein binding family A member 1 [Gene - OMIM - HGNC]
  • ANXA1:annexin A1 [Gene - OMIM - HGNC]
  • CARNMT1:carnosine N-methyltransferase 1 [Gene - OMIM - HGNC]
  • CEMIP2:cell migration inducing hyaluronidase 2 [Gene - OMIM - HGNC]
  • CEP78:centrosomal protein 78 [Gene - OMIM - HGNC]
  • C9orf135:chromosome 9 open reading frame 135 [Gene - HGNC]
  • C9orf40:chromosome 9 open reading frame 40 [Gene - HGNC]
  • C9orf57:chromosome 9 open reading frame 57 [Gene - HGNC]
  • C9orf85:chromosome 9 open reading frame 85 [Gene - HGNC]
  • FAM122A:family with sequence similarity 122A [Gene - OMIM - HGNC]
  • FAM189A2:family with sequence similarity 189 member A2 [Gene - OMIM - HGNC]
  • FOXB2:forkhead box B2 [Gene - HGNC]
  • FXN:frataxin [Gene - OMIM - HGNC]
  • GCNT1:glucosaminyl (N-acetyl) transferase 1 [Gene - OMIM - HGNC]
  • GDA:guanine deaminase [Gene - OMIM - HGNC]
  • MIR204:microRNA 204 [Gene - OMIM - HGNC]
  • NMRK1:nicotinamide riboside kinase 1 [Gene - OMIM - HGNC]
  • OSTF1:osteoclast stimulating factor 1 [Gene - OMIM - HGNC]
  • PIP5K1B:phosphatidylinositol-4-phosphate 5-kinase type 1 beta [Gene - OMIM - HGNC]
  • PGM5:phosphoglucomutase 5 [Gene - OMIM - HGNC]
  • PSAT1:phosphoserine aminotransferase 1 [Gene - OMIM - HGNC]
  • PCSK5:proprotein convertase subtilisin/kexin type 5 [Gene - OMIM - HGNC]
  • PCA3:prostate cancer associated 3 [Gene - OMIM - HGNC]
  • PRKACG:protein kinase cAMP-activated catalytic subunit gamma [Gene - OMIM - HGNC]
  • PTAR1:protein prenyltransferase alpha subunit repeat containing 1 [Gene - HGNC]
  • PRUNE2:prune homolog 2 with BCH domain [Gene - OMIM - HGNC]
  • RFK:riboflavin kinase [Gene - OMIM - HGNC]
  • SMC5:structural maintenance of chromosomes 5 [Gene - OMIM - HGNC]
  • TJP2:tight junction protein 2 [Gene - OMIM - HGNC]
  • TRPM3:transient receptor potential cation channel subfamily M member 3 [Gene - OMIM - HGNC]
  • TRPM6:transient receptor potential cation channel subfamily M member 6 [Gene - OMIM - HGNC]
  • TMC1:transmembrane channel like 1 [Gene - OMIM - HGNC]
  • TMEM252:transmembrane protein 252 [Gene - HGNC]
  • VPS13A:vacuolar protein sorting 13 homolog A [Gene - OMIM - HGNC]
  • ZFAND5:zinc finger AN1-type containing 5 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q21.11-21.31
Genomic location:
Chr9: 70974661 - 81829792 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q21.11-21.31(chr9:70974661-81829792)x1
HGVS:

    Condition(s)

    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000988489Lineagen Inc.no assertion criteria providedPathogenic
    (Sep 18, 2018)
    unknownclinical testing

    Summary from all submissions

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

    Details of each submission

    From Lineagen Inc., SCV000988489.1

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

    Last Updated: Dec 17, 2019

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