U.S. flag

An official website of the United States government

GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4 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:
RCV000448695.4

Allele description [Variation Report for GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4]

GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4

Genes:
  • AGPAT5:1-acylglycerol-3-phosphate O-acyltransferase 5 [Gene - OMIM - HGNC]
  • BLK:BLK proto-oncogene, Src family tyrosine kinase [Gene - OMIM - HGNC]
  • CNOT7:CCR4-NOT transcription complex subunit 7 [Gene - OMIM - HGNC]
  • CLN8:CLN8 transmembrane ER and ERGIC protein [Gene - OMIM - HGNC]
  • CSMD1:CUB and Sushi multiple domains 1 [Gene - OMIM - HGNC]
  • DLC1:DLC1 Rho GTPase activating protein [Gene - OMIM - HGNC]
  • DLGAP2:DLG associated protein 2 [Gene - OMIM - HGNC]
  • FBXO25:F-box protein 25 [Gene - OMIM - HGNC]
  • GATA4:GATA binding protein 4 [Gene - OMIM - HGNC]
  • LONRF1:LON peptidase N-terminal domain and ring finger 1 [Gene - HGNC]
  • PINX1:PIN2 (TERF1) interacting telomerase inhibitor 1 [Gene - OMIM - HGNC]
  • RP1L1:RP1 like 1 [Gene - OMIM - HGNC]
  • ARHGEF10:Rho guanine nucleotide exchange factor 10 [Gene - OMIM - HGNC]
  • SOX7:SRY-box transcription factor 7 [Gene - OMIM - HGNC]
  • VPS37A:VPS37A subunit of ESCRT-I [Gene - OMIM - HGNC]
  • XKR5:XK related 5 [Gene - HGNC]
  • XKR6:XK related 6 [Gene - HGNC]
  • ANGPT2:angiopoietin 2 [Gene - OMIM - HGNC]
  • CTSB:cathepsin B [Gene - OMIM - HGNC]
  • C8orf48:chromosome 8 open reading frame 48 [Gene - HGNC]
  • C8orf74:chromosome 8 open reading frame 74 [Gene - HGNC]
  • CLDN23:claudin 23 [Gene - OMIM - HGNC]
  • DEFA1:defensin alpha 1 [Gene - OMIM - HGNC]
  • DEFA1B:defensin alpha 1B [Gene - HGNC]
  • DEFA3:defensin alpha 3 [Gene - OMIM - HGNC]
  • DEFA4:defensin alpha 4 [Gene - OMIM - HGNC]
  • DEFA5:defensin alpha 5 [Gene - OMIM - HGNC]
  • DEFA6:defensin alpha 6 [Gene - OMIM - HGNC]
  • DEFB103A:defensin beta 103A [Gene - HGNC]
  • DEFB103B:defensin beta 103B [Gene - OMIM - HGNC]
  • DEFB104A:defensin beta 104A [Gene - HGNC]
  • DEFB104B:defensin beta 104B [Gene - HGNC]
  • DEFB105A:defensin beta 105A [Gene - HGNC]
  • DEFB105B:defensin beta 105B [Gene - HGNC]
  • DEFB106A:defensin beta 106A [Gene - HGNC]
  • DEFB106B:defensin beta 106B [Gene - HGNC]
  • DEFB107A:defensin beta 107A [Gene - HGNC]
  • DEFB107B:defensin beta 107B [Gene - HGNC]
  • DEFB130A:defensin beta 130A [Gene - HGNC]
  • DEFB134:defensin beta 134 [Gene - HGNC]
  • DEFB135:defensin beta 135 [Gene - HGNC]
  • DEFB136:defensin beta 136 [Gene - HGNC]
  • DEFB1:defensin beta 1 [Gene - OMIM - HGNC]
  • DEFB4A:defensin beta 4A [Gene - OMIM - HGNC]
  • DEFB4B:defensin beta 4B [Gene - HGNC]
  • ERI1:exoribonuclease 1 [Gene - OMIM - HGNC]
  • FAM167A:family with sequence similarity 167 member A [Gene - OMIM - HGNC]
  • FAM86B1:family with sequence similarity 86 member B1 [Gene - OMIM - HGNC]
  • FAM86B2:family with sequence similarity 86 member B2 [Gene - OMIM - HGNC]
  • FDFT1:farnesyl-diphosphate farnesyltransferase 1 [Gene - OMIM - HGNC]
  • FGF20:fibroblast growth factor 20 [Gene - OMIM - HGNC]
  • ERICH1:glutamate rich 1 [Gene - HGNC]
  • KBTBD11:kelch repeat and BTB domain containing 11 [Gene - OMIM - HGNC]
  • MSR1:macrophage scavenger receptor 1 [Gene - OMIM - HGNC]
  • MSRA:methionine sulfoxide reductase A [Gene - OMIM - HGNC]
  • MIR124-1:microRNA 124-1 [Gene - OMIM - HGNC]
  • MCPH1:microcephalin 1 [Gene - OMIM - HGNC]
  • MTUS1:microtubule associated scaffold protein 1 [Gene - OMIM - HGNC]
  • MICU3:mitochondrial calcium uptake family member 3 [Gene - OMIM - HGNC]
  • MFHAS1:multifunctional ROCO family signaling regulator 1 [Gene - OMIM - HGNC]
  • MYOM2:myomesin 2 [Gene - OMIM - HGNC]
  • MTMR7:myotubularin related protein 7 [Gene - OMIM - HGNC]
  • MTMR9:myotubularin related protein 9 [Gene - OMIM - HGNC]
  • NEIL2:nei like DNA glycosylase 2 [Gene - OMIM - HGNC]
  • PDGFRL:platelet derived growth factor receptor like [Gene - OMIM - HGNC]
  • PPP1R3B:protein phosphatase 1 regulatory subunit 3B [Gene - OMIM - HGNC]
  • SGCZ:sarcoglycan zeta [Gene - OMIM - HGNC]
  • PRSS51:serine protease 51 [Gene - HGNC]
  • PRSS55:serine protease 55 [Gene - OMIM - HGNC]
  • SLC35G5:solute carrier family 35 member G5 [Gene - OMIM - HGNC]
  • SLC7A2:solute carrier family 7 member 2 [Gene - OMIM - HGNC]
  • SPAG11A:sperm associated antigen 11A [Gene - HGNC]
  • SPAG11B:sperm associated antigen 11B [Gene - OMIM - HGNC]
  • TRMT9B:tRNA methyltransferase 9B (putative) [Gene - OMIM - HGNC]
  • TNKS:tankyrase [Gene - OMIM - HGNC]
  • TDRP:testis development related protein [Gene - OMIM - HGNC]
  • TUSC3:tumor suppressor candidate 3 [Gene - OMIM - HGNC]
  • USP17L1:ubiquitin specific peptidase 17 like family member 1 [Gene - HGNC]
  • USP17L2:ubiquitin specific peptidase 17 like family member 2 [Gene - OMIM - HGNC]
  • USP17L3:ubiquitin specific peptidase 17 like family member 3 [Gene - HGNC]
  • USP17L4:ubiquitin specific peptidase 17 like family member 4 [Gene - HGNC]
  • USP17L7:ubiquitin specific peptidase 17 like family member 7 [Gene - HGNC]
  • USP17L8:ubiquitin specific peptidase 17 like family member 8 [Gene - HGNC]
  • ZDHHC2:zinc finger DHHC-type palmitoyltransferase 2 [Gene - OMIM - HGNC]
  • ZNF596:zinc finger protein 596 [Gene - HGNC]
  • ZNF705B:zinc finger protein 705B [Gene - HGNC]
  • ZNF705D:zinc finger protein 705D [Gene - HGNC]
  • ZNF705G:zinc finger protein 705G [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p23.3-22
Genomic location:
Chr8: 158991 - 17536147 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8p23.3-22(chr8:158991-17536147)x4
HGVS:
    Links:
    dbVar: nssv13640637; dbVar: nsv2773633
    Observations:
    1

    Condition(s)

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

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000500144ISCA Site 6

    See additional submitters

    no assertion criteria provided
    Pathogenicunknownclinical testing

    PubMed (1)
    [See all records that cite this PMID]

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providednot providedyes1not providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

    Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

    Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

    PubMed [citation]
    PMID:
    20466091
    PMCID:
    PMC2869000

    Details of each submission

    From ISCA Site 6, SCV000500144.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1unknownyesnot providednot providedDiscovery1not providednot providednot provided

    Last Updated: Sep 1, 2024