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GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1 AND not specified

Germline classification:
Pathogenic (1 submission)
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV003986787.1

Allele description [Variation Report for GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1]

GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1

Genes:
  • ABCA1:ATP binding cassette subfamily A member 1 [Gene - OMIM - HGNC]
  • MSANTD3-TMEFF1:MSANTD3-TMEFF1 readthrough [Gene - HGNC]
  • MSANTD3:Myb/SANT DNA binding domain containing 3 [Gene - HGNC]
  • TAL2:TAL bHLH transcription factor 2 [Gene - OMIM - HGNC]
  • ALDOB:aldolase, fructose-bisphosphate B [Gene - OMIM - HGNC]
  • BAAT:bile acid-CoA:amino acid N-acyltransferase [Gene - OMIM - HGNC]
  • CAVIN4:caveolae associated protein 4 [Gene - OMIM - HGNC]
  • CYLC2:cylicin 2 [Gene - OMIM - HGNC]
  • ERP44:endoplasmic reticulum protein 44 [Gene - OMIM - HGNC]
  • FSD1L:fibronectin type III and SPRY domain containing 1 like [Gene - OMIM - HGNC]
  • FKTN:fukutin [Gene - OMIM - HGNC]
  • GRIN3A:glutamate ionotropic receptor NMDA type subunit 3A [Gene - OMIM - HGNC]
  • INVS:inversin [Gene - OMIM - HGNC]
  • MRPL50:mitochondrial ribosomal protein L50 [Gene - OMIM - HGNC]
  • NIPSNAP3A:nipsnap homolog 3A [Gene - OMIM - HGNC]
  • NIPSNAP3B:nipsnap homolog 3B [Gene - OMIM - HGNC]
  • NR4A3:nuclear receptor subfamily 4 group A member 3 [Gene - OMIM - HGNC]
  • OR13C2:olfactory receptor family 13 subfamily C member 2 [Gene - HGNC]
  • OR13C3:olfactory receptor family 13 subfamily C member 3 [Gene - HGNC]
  • OR13C4:olfactory receptor family 13 subfamily C member 4 [Gene - HGNC]
  • OR13C5:olfactory receptor family 13 subfamily C member 5 [Gene - HGNC]
  • OR13C8:olfactory receptor family 13 subfamily C member 8 [Gene - HGNC]
  • OR13C9:olfactory receptor family 13 subfamily C member 9 [Gene - HGNC]
  • OR13D1:olfactory receptor family 13 subfamily D member 1 [Gene - HGNC]
  • OR13F1:olfactory receptor family 13 subfamily F member 1 [Gene - HGNC]
  • PGAP4:post-GPI attachment to proteins GalNAc transferase 4 [Gene - OMIM - HGNC]
  • PPP3R2:protein phosphatase 3 regulatory subunit B, beta [Gene - OMIM - HGNC]
  • RNF20:ring finger protein 20 [Gene - OMIM - HGNC]
  • SLC44A1:solute carrier family 44 member 1 [Gene - OMIM - HGNC]
  • SMC2:structural maintenance of chromosomes 2 [Gene - OMIM - HGNC]
  • STX17:syntaxin 17 [Gene - OMIM - HGNC]
  • TEX10:testis expressed 10 [Gene - OMIM - HGNC]
  • TMEM38B:transmembrane protein 38B [Gene - OMIM - HGNC]
  • TMEFF1:transmembrane protein with EGF like and two follistatin like domains 1 [Gene - OMIM - HGNC]
  • ZNF189:zinc finger protein 189 [Gene - OMIM - HGNC]
  • ZNF462:zinc finger protein 462 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
9q31.1-31.2
Genomic location:
Chr9: 102606857 - 109839724 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 9q31.1-31.2(chr9:102606857-109839724)x1
HGVS:
    Observations:
    1

    Condition(s)

    Synonyms:
    AllHighlyPenetrant
    Identifiers:
    MedGen: CN169374

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV004802916ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories
    criteria provided, single submitter

    (Constitutional Copy Number Variant Assertion Criteria)
    Pathogenicgermlineclinical testing

    Citation Link

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineunknown1not providednot providednot providednot providedclinical testing

    Details of each submission

    From ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories, SCV004802916.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineunknownnot providednot providednot provided1not providednot providednot provided

    Last Updated: Mar 30, 2024