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GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 20, 2017
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:
RCV000682233.1

Allele description [Variation Report for GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3]

GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3

Genes:
  • HACL1:2-hydroxyacyl-CoA lyase 1 [Gene - OMIM - HGNC]
  • OGG1:8-oxoguanine DNA glycosylase [Gene - OMIM - HGNC]
  • ARL8B:ADP ribosylation factor like GTPase 8B [Gene - OMIM - HGNC]
  • ARPC4-TTLL3:ARPC4-TTLL3 readthrough [Gene - HGNC]
  • ATP2B2:ATPase plasma membrane Ca2+ transporting 2 [Gene - OMIM - HGNC]
  • BRK1:BRICK1 subunit of SCAR/WAVE actin nucleating complex [Gene - OMIM - HGNC]
  • EAF1:ELL associated factor 1 [Gene - OMIM - HGNC]
  • EDEM1:ER degradation enhancing alpha-mannosidase like protein 1 [Gene - OMIM - HGNC]
  • EMC3:ER membrane protein complex subunit 3 [Gene - OMIM - HGNC]
  • FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]
  • FANCD2OS:FANCD2 opposite strand [Gene - HGNC]
  • FGD5-AS1:FGD5 antisense RNA 1 [Gene - HGNC]
  • FGD5:FYVE, RhoGEF and PH domain containing 5 [Gene - OMIM - HGNC]
  • IQSEC1:IQ motif and Sec7 domain ArfGEF 1 [Gene - OMIM - HGNC]
  • LHFPL4:LHFPL tetraspan subfamily member 4 [Gene - OMIM - HGNC]
  • LMCD1:LIM and cysteine rich domains 1 [Gene - OMIM - HGNC]
  • LSM3:LSM3 homolog, U6 small nuclear RNA and mRNA degradation associated [Gene - OMIM - HGNC]
  • RAD18:RAD18 E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • RPUSD3:RNA pseudouridine synthase D3 [Gene - OMIM - HGNC]
  • RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
  • SEC13:SEC13 homolog, nuclear pore and COPII coat complex component [Gene - OMIM - HGNC]
  • SETD5:SET domain containing 5 [Gene - OMIM - HGNC]
  • SH3BP5:SH3 domain binding protein 5 [Gene - OMIM - HGNC]
  • SRGAP3:SLIT-ROBO Rho GTPase activating protein 3 [Gene - OMIM - HGNC]
  • TAMM41:TAM41 mitochondrial translocator assembly and maintenance homolog [Gene - OMIM - HGNC]
  • THUMPD3:THUMP domain containing 3 [Gene - HGNC]
  • TIMP4:TIMP metallopeptidase inhibitor 4 [Gene - OMIM - HGNC]
  • TATDN2:TatD DNase domain containing 2 [Gene - OMIM - HGNC]
  • WNT7A:Wnt family member 7A [Gene - OMIM - HGNC]
  • XPC:XPC complex subunit, DNA damage recognition and repair factor [Gene - OMIM - HGNC]
  • ARPC4:actin related protein 2/3 complex subunit 4 [Gene - OMIM - HGNC]
  • ANKRD28:ankyrin repeat domain 28 [Gene - OMIM - HGNC]
  • ATG7:autophagy related 7 [Gene - OMIM - HGNC]
  • BTD:biotinidase [Gene - OMIM - HGNC]
  • BRPF1:bromodomain and PHD finger containing 1 [Gene - OMIM - HGNC]
  • CAMK1:calcium/calmodulin dependent protein kinase I [Gene - OMIM - HGNC]
  • CAPN7:calpain 7 [Gene - OMIM - HGNC]
  • CAV3:caveolin 3 [Gene - OMIM - HGNC]
  • CIDEC:cell death inducing DFFA like effector c [Gene - OMIM - HGNC]
  • C3orf20:chromosome 3 open reading frame 20 [Gene - OMIM - HGNC]
  • CCDC174:coiled-coil domain containing 174 [Gene - OMIM - HGNC]
  • CHCHD4:coiled-coil-helix-coiled-coil-helix domain containing 4 [Gene - OMIM - HGNC]
  • COLQ:collagen like tail subunit of asymmetric acetylcholinesterase [Gene - OMIM - HGNC]
  • CPNE9:copine family member 9 [Gene - HGNC]
  • CAND2:cullin associated and neddylation dissociated 2 (putative) [Gene - OMIM - HGNC]
  • CRELD1:cysteine rich with EGF like domains 1 [Gene - OMIM - HGNC]
  • DAZL:deleted in azoospermia like [Gene - OMIM - HGNC]
  • DPH3:diphthamide biosynthesis 3 [Gene - OMIM - HGNC]
  • FBLN2:fibulin 2 [Gene - OMIM - HGNC]
  • GHRL:ghrelin and obestatin prepropeptide [Gene - OMIM - HGNC]
  • GHRLOS:ghrelin opposite strand/antisense RNA [Gene - OMIM - HGNC]
  • GRM7:glutamate metabotropic receptor 7 [Gene - OMIM - HGNC]
  • GRIP2:glutamate receptor interacting protein 2 [Gene - HGNC]
  • HRH1:histamine receptor H1 [Gene - OMIM - HGNC]
  • HDAC11:histone deacetylase 11 [Gene - OMIM - HGNC]
  • IRAK2:interleukin 1 receptor associated kinase 2 [Gene - OMIM - HGNC]
  • IL17RC:interleukin 17 receptor C [Gene - OMIM - HGNC]
  • IL17RE:interleukin 17 receptor E [Gene - OMIM - HGNC]
  • JAGN1:jagunal homolog 1 [Gene - OMIM - HGNC]
  • LINC00312:long intergenic non-protein coding RNA 312 [Gene - OMIM - HGNC]
  • MKRN2:makorin ring finger protein 2 [Gene - OMIM - HGNC]
  • METTL6:methyltransferase 6, methylcytidine [Gene - OMIM - HGNC]
  • MRPS25:mitochondrial ribosomal protein S25 [Gene - OMIM - HGNC]
  • MTMR14:myotubularin related protein 14 [Gene - OMIM - HGNC]
  • NR2C2:nuclear receptor subfamily 2 group C member 2 [Gene - OMIM - HGNC]
  • NUP210:nucleoporin 210 [Gene - OMIM - HGNC]
  • OXNAD1:oxidoreductase NAD binding domain containing 1 [Gene - HGNC]
  • OXTR:oxytocin receptor [Gene - OMIM - HGNC]
  • PPARG:peroxisome proliferator activated receptor gamma [Gene - OMIM - HGNC]
  • GALNT15:polypeptide N-acetylgalactosaminyltransferase 15 [Gene - OMIM - HGNC]
  • PRRT3:proline rich transmembrane protein 3 [Gene - OMIM - HGNC]
  • RBSN:rabenosyn, RAB effector [Gene - OMIM - HGNC]
  • RFTN1:raftlin, lipid raft linker 1 [Gene - OMIM - HGNC]
  • RPL32:ribosomal protein L32 [Gene - HGNC]
  • SLC6A11:solute carrier family 6 member 11 [Gene - OMIM - HGNC]
  • SLC6A1:solute carrier family 6 member 1 [Gene - OMIM - HGNC]
  • SLC6A6:solute carrier family 6 member 6 [Gene - OMIM - HGNC]
  • SSUH2:ssu-2 homolog [Gene - OMIM - HGNC]
  • SYN2:synapsin II [Gene - OMIM - HGNC]
  • TSEN2:tRNA splicing endonuclease subunit 2 [Gene - OMIM - HGNC]
  • TADA3:transcriptional adaptor 3 [Gene - OMIM - HGNC]
  • TMEM40:transmembrane protein 40 [Gene - HGNC]
  • TMEM43:transmembrane protein 43 [Gene - OMIM - HGNC]
  • TTLL3:tubulin tyrosine ligase like 3 [Gene - OMIM - HGNC]
  • VGLL4:vestigial like family member 4 [Gene - OMIM - HGNC]
  • VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p26.1-24.3
Genomic location:
Chr3: 5173870 - 16760262 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3
HGVS:

    Condition(s)

    Synonyms:
    none provided
    Identifiers:
    MedGen: CN517202

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    Assertion and evidence details

    Submission AccessionSubmitterReview Status
    (Assertion method)
    Clinical Significance
    (Last evaluated)
    OriginMethodCitations
    SCV000809740Quest Diagnostics Nichols Institute San Juan Capistrano
    no assertion criteria provided
    Pathogenic
    (Oct 20, 2017)
    germlineclinical testing

    Summary from all submissions

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

    Details of each submission

    From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000809740.1

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

    Last Updated: Mar 26, 2023