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GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 30, 2011
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:
RCV000445679.4

Allele description [Variation Report for GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)]

GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)

Genes:
  • ATP2A3:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [Gene - OMIM - HGNC]
  • CXCL16:C-X-C motif chemokine ligand 16 [Gene - OMIM - HGNC]
  • CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • DHX33:DEAH-box helicase 33 [Gene - OMIM - HGNC]
  • EMC6:ER membrane protein complex subunit 6 [Gene - OMIM - HGNC]
  • FBXO39:F-box protein 39 [Gene - OMIM - HGNC]
  • HIC1:HIC ZBTB transcriptional repressor 1 [Gene - OMIM - HGNC]
  • KIAA0753:KIAA0753 [Gene - OMIM - HGNC]
  • MNT:MAX network transcriptional repressor [Gene - OMIM - HGNC]
  • MIS12:MIS12 kinetochore complex component [Gene - OMIM - HGNC]
  • MYBBP1A:MYB binding protein 1a [Gene - OMIM - HGNC]
  • NLRP1:NLR family pyrin domain containing 1 [Gene - OMIM - HGNC]
  • OVCA2:OVCA2 serine hydrolase domain containing [Gene - OMIM - HGNC]
  • PIMREG:PICALM interacting mitotic regulator [Gene - OMIM - HGNC]
  • PITPNM3:PITPNM family member 3 [Gene - OMIM - HGNC]
  • RAP1GAP2:RAP1 GTPase activating protein 2 [Gene - OMIM - HGNC]
  • RPAIN:RPA interacting protein [Gene - OMIM - HGNC]
  • RILP:Rab interacting lysosomal protein [Gene - OMIM - HGNC]
  • SMYD4:SET and MYND domain containing 4 [Gene - OMIM - HGNC]
  • SCIMP:SLP adaptor and CSK interacting membrane protein [Gene - OMIM - HGNC]
  • SMG6:SMG6 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • SPNS2:SPNS lysolipid transporter 2, sphingosine-1-phosphate [Gene - OMIM - HGNC]
  • SPNS3:SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) [Gene - OMIM - HGNC]
  • TLCD2:TLC domain containing 2 [Gene - HGNC]
  • TSR1:TSR1 ribosome maturation factor [Gene - OMIM - HGNC]
  • TAX1BP3:Tax1 binding protein 3 [Gene - OMIM - HGNC]
  • WDR81:WD repeat domain 81 [Gene - OMIM - HGNC]
  • WSCD1:WSC domain containing 1 [Gene - OMIM - HGNC]
  • XAF1:XIAP associated factor 1 [Gene - OMIM - HGNC]
  • ZFP3:ZFP3 zinc finger protein [Gene - OMIM - HGNC]
  • ANKFY1:ankyrin repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • ALOX15:arachidonate 15-lipoxygenase [Gene - OMIM - HGNC]
  • ARRB2:arrestin beta 2 [Gene - OMIM - HGNC]
  • AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]
  • ASPA:aspartoacylase [Gene - OMIM - HGNC]
  • BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
  • CAMKK1:calcium/calmodulin dependent protein kinase kinase 1 [Gene - OMIM - HGNC]
  • CAMTA2:calmodulin binding transcription activator 2 [Gene - OMIM - HGNC]
  • CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
  • C17orf100:chromosome 17 open reading frame 100 [Gene - HGNC]
  • C17orf107:chromosome 17 open reading frame 107 [Gene - HGNC]
  • CLUH:clustered mitochondria homolog [Gene - OMIM - HGNC]
  • C1QBP:complement C1q binding protein [Gene - OMIM - HGNC]
  • CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
  • CYB5D2:cytochrome b5 domain containing 2 [Gene - HGNC]
  • DERL2:derlin 2 [Gene - OMIM - HGNC]
  • DPH1:diphthamide biosynthesis 1 [Gene - OMIM - HGNC]
  • ENO3:enolase 3 [Gene - OMIM - HGNC]
  • GGT6:gamma-glutamyltransferase 6 [Gene - OMIM - HGNC]
  • GLTPD2:glycolipid transfer protein domain containing 2 [Gene - HGNC]
  • GP1BA:glycoprotein Ib platelet subunit alpha [Gene - OMIM - HGNC]
  • HASPIN:histone H3 associated protein kinase [Gene - OMIM - HGNC]
  • INCA1:inhibitor of CDK, cyclin A1 interacting protein 1 [Gene - OMIM - HGNC]
  • INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
  • ITGAE:integrin subunit alpha E [Gene - OMIM - HGNC]
  • KIF1C:kinesin family member 1C [Gene - OMIM - HGNC]
  • MED11:mediator complex subunit 11 [Gene - OMIM - HGNC]
  • MED31:mediator complex subunit 31 [Gene - OMIM - HGNC]
  • METTL16:methyltransferase 16, RNA N6-adenosine [Gene - HGNC]
  • MIR132:microRNA 132 [Gene - OMIM - HGNC]
  • MIR212:microRNA 212 [Gene - OMIM - HGNC]
  • MIR22:microRNA 22 [Gene - OMIM - HGNC]
  • MINK1:misshapen like kinase 1 [Gene - OMIM - HGNC]
  • MYO1C:myosin IC [Gene - OMIM - HGNC]
  • NCBP3:nuclear cap binding subunit 3 [Gene - OMIM - HGNC]
  • NUP88:nucleoporin 88 [Gene - OMIM - HGNC]
  • OR1A1:olfactory receptor family 1 subfamily A member 1 [Gene - OMIM - HGNC]
  • OR1A2:olfactory receptor family 1 subfamily A member 2 [Gene - OMIM - HGNC]
  • OR1D2:olfactory receptor family 1 subfamily D member 2 [Gene - OMIM - HGNC]
  • OR1D5:olfactory receptor family 1 subfamily D member 5 [Gene - HGNC]
  • OR1E1:olfactory receptor family 1 subfamily E member 1 [Gene - HGNC]
  • OR1E2:olfactory receptor family 1 subfamily E member 2 [Gene - HGNC]
  • OR1G1:olfactory receptor family 1 subfamily G member 1 [Gene - HGNC]
  • OR3A1:olfactory receptor family 3 subfamily A member 1 [Gene - HGNC]
  • OR3A2:olfactory receptor family 3 subfamily A member 2 [Gene - HGNC]
  • OR3A3:olfactory receptor family 3 subfamily A member 3 [Gene - HGNC]
  • PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
  • PLD2:phospholipase D2 [Gene - OMIM - HGNC]
  • PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
  • PRPF8:pre-mRNA processing factor 8 [Gene - OMIM - HGNC]
  • PFN1:profilin 1 [Gene - OMIM - HGNC]
  • PELP1:proline, glutamate and leucine rich protein 1 [Gene - OMIM - HGNC]
  • PSMB6:proteasome 20S subunit beta 6 [Gene - OMIM - HGNC]
  • P2RX1:purinergic receptor P2X 1 [Gene - OMIM - HGNC]
  • P2RX5:purinergic receptor P2X 5 [Gene - OMIM - HGNC]
  • RABEP1:rabaptin, RAB GTPase binding effector protein 1 [Gene - OMIM - HGNC]
  • RPA1:replication protein A1 [Gene - OMIM - HGNC]
  • RTN4RL1:reticulon 4 receptor like 1 [Gene - OMIM - HGNC]
  • RNF167:ring finger protein 167 [Gene - OMIM - HGNC]
  • SCARF1:scavenger receptor class F member 1 [Gene - OMIM - HGNC]
  • SHPK:sedoheptulokinase [Gene - OMIM - HGNC]
  • SRR:serine racemase [Gene - OMIM - HGNC]
  • SERPINF1:serpin family F member 1 [Gene - OMIM - HGNC]
  • SERPINF2:serpin family F member 2 [Gene - OMIM - HGNC]
  • SGSM2:small G protein signaling modulator 2 [Gene - OMIM - HGNC]
  • SMTNL2:smoothelin like 2 [Gene - HGNC]
  • SLC13A5:solute carrier family 13 member 5 [Gene - OMIM - HGNC]
  • SLC25A11:solute carrier family 25 member 11 [Gene - OMIM - HGNC]
  • SLC43A2:solute carrier family 43 member 2 [Gene - OMIM - HGNC]
  • SLC52A1:solute carrier family 52 member 1 [Gene - OMIM - HGNC]
  • SPAG7:sperm associated antigen 7 [Gene - OMIM - HGNC]
  • SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]
  • TEKT1:tektin 1 [Gene - OMIM - HGNC]
  • TXNDC17:thioredoxin domain containing 17 [Gene - OMIM - HGNC]
  • TRARG1:trafficking regulator of GLUT4 (SLC2A4) 1 [Gene - OMIM - HGNC]
  • TRPV1:transient receptor potential cation channel subfamily V member 1 [Gene - OMIM - HGNC]
  • TRPV3:transient receptor potential cation channel subfamily V member 3 [Gene - OMIM - HGNC]
  • TM4SF5:transmembrane 4 L six family member 5 [Gene - OMIM - HGNC]
  • YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]
  • UBE2G1:ubiquitin conjugating enzyme E2 G1 [Gene - OMIM - HGNC]
  • USP6:ubiquitin specific peptidase 6 [Gene - OMIM - HGNC]
  • LOC100288728:uncharacterized LOC100288728 [Gene]
  • VMO1:vitelline membrane outer layer 1 homolog [Gene - HGNC]
  • ZMYND15:zinc finger MYND-type containing 15 [Gene - OMIM - HGNC]
  • ZZEF1:zinc finger ZZ-type and EF-hand domain containing 1 [Gene - OMIM - HGNC]
  • ZNF232:zinc finger protein 232 [Gene - OMIM - HGNC]
  • ZNF594:zinc finger protein 594 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17p13.3-13.1
Genomic location:
Chr17: 1113102 - 6742486 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486)
HGVS:
    Links:
    dbVar: nssv3396519; dbVar: nsv993467
    Observations:
    1

    Condition(s)

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

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    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000501204ISCA Site 6

    See additional submitters

    no assertion criteria provided
    		Pathogenic
    (Apr 30, 2011)     		unknownclinical testing

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

    Help

    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, SCV000501204.1

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

    Last Updated: May 7, 2024