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NC_000017.10:g.(?_422368)_(8285628_?)dup AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 18, 2022
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:
RCV004581443.2

Allele description [Variation Report for NC_000017.10:g.(?_422368)_(8285628_?)dup]

NC_000017.10:g.(?_422368)_(8285628_?)dup

Genes:
  • ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
  • ATP1B2:ATPase Na+/K+ transporting subunit beta 2 [Gene - OMIM - HGNC]
  • ATP2A3:ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 3 [Gene - OMIM - HGNC]
  • ACAP1:ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 [Gene - OMIM - HGNC]
  • BCL6B:BCL6B transcription repressor [Gene - OMIM - HGNC]
  • BORCS6:BLOC-1 related complex subunit 6 [Gene - OMIM - HGNC]
  • BACC1:BPTF associated chromatin complex component 1 [Gene - OMIM - HGNC]
  • CXCL16:C-X-C motif chemokine ligand 16 [Gene - OMIM - HGNC]
  • CLEC10A:C-type lectin domain containing 10A [Gene - OMIM - HGNC]
  • CD68:CD68 molecule [Gene - OMIM - HGNC]
  • CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
  • CTC1:CST telomere replication complex component 1 [Gene - OMIM - HGNC]
  • CTDNEP1:CTD nuclear envelope phosphatase 1 [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]
  • FXR2:FMR1 autosomal homolog 2 [Gene - OMIM - HGNC]
  • GPS2:G protein pathway suppressor 2 [Gene - OMIM - HGNC]
  • GABARAP:GABA type A receptor-associated protein [Gene - OMIM - HGNC]
  • HIC1:HIC ZBTB transcriptional repressor 1 [Gene - OMIM - HGNC]
  • KIAA0753:KIAA0753 [Gene - OMIM - HGNC]
  • KRBA2:KRAB-A domain containing 2 [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]
  • NAA38:N-alpha-acetyltransferase 38, NatC auxiliary subunit [Gene - OMIM - HGNC]
  • NLRP1:NLR family pyrin domain containing 1 [Gene - OMIM - HGNC]
  • OVCA2:OVCA2 serine hydrolase domain containing [Gene - OMIM - HGNC]
  • PHF23:PHD finger protein 23 [Gene - OMIM - HGNC]
  • PIMREG:PICALM interacting mitotic regulator [Gene - OMIM - HGNC]
  • PITPNM3:PITPNM family member 3 [Gene - OMIM - HGNC]
  • RANGRF:RAN guanine nucleotide release factor [Gene - OMIM - HGNC]
  • RAP1GAP2:RAP1 GTPase activating protein 2 [Gene - OMIM - HGNC]
  • POLR2A:RNA polymerase II subunit A [Gene - OMIM - HGNC]
  • RPAIN:RPA interacting protein [Gene - OMIM - HGNC]
  • RILP:Rab interacting lysosomal protein [Gene - OMIM - HGNC]
  • ARHGEF15:Rho guanine nucleotide exchange factor 15 [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]
  • SPEM2:SPEM family member 2 [Gene - HGNC]
  • SPNS2:SPNS lysolipid transporter 2, sphingosine-1-phosphate [Gene - OMIM - HGNC]
  • SPNS3:SPNS lysolipid transporter 3, sphingosine-1-phosphate (putative) [Gene - OMIM - HGNC]
  • SOX15:SRY-box transcription factor 15 [Gene - OMIM - HGNC]
  • SENP3:SUMO specific peptidase 3 [Gene - OMIM - HGNC]
  • TLCD2:TLC domain containing 2 [Gene - HGNC]
  • TLCD3A:TLC domain containing 3A [Gene - OMIM - HGNC]
  • TNFSF12:TNF superfamily member 12 [Gene - OMIM - HGNC]
  • TNFSF13:TNF superfamily member 13 [Gene - OMIM - HGNC]
  • TNFSF12-TNFSF13:TNFSF12-TNFSF13 readthrough [Gene - HGNC]
  • TSR1:TSR1 ribosome maturation factor [Gene - OMIM - HGNC]
  • TAX1BP3:Tax1 binding protein 3 [Gene - OMIM - HGNC]
  • VPS53:VPS53 subunit of GARP complex [Gene - OMIM - HGNC]
  • WRAP53:WD repeat containing antisense to TP53 [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]
  • YBX2:Y-box binding protein 2 [Gene - OMIM - HGNC]
  • ZFP3:ZFP3 zinc finger protein [Gene - OMIM - HGNC]
  • ACADVL:acyl-CoA dehydrogenase very long chain [Gene - OMIM - HGNC]
  • ANKFY1:ankyrin repeat and FYVE domain containing 1 [Gene - OMIM - HGNC]
  • ALOX12B:arachidonate 12-lipoxygenase, 12R type [Gene - OMIM - HGNC]
  • ALOX12:arachidonate 12-lipoxygenase, 12S type [Gene - OMIM - HGNC]
  • ALOX15B:arachidonate 15-lipoxygenase type B [Gene - OMIM - HGNC]
  • ALOX15:arachidonate 15-lipoxygenase [Gene - OMIM - HGNC]
  • ALOXE3:arachidonate epidermal lipoxygenase 3 [Gene - OMIM - HGNC]
  • ARRB2:arrestin beta 2 [Gene - OMIM - HGNC]
  • AIPL1:aryl hydrocarbon receptor interacting protein like 1 [Gene - OMIM - HGNC]
  • ASGR1:asialoglycoprotein receptor 1 [Gene - OMIM - HGNC]
  • ASGR2:asialoglycoprotein receptor 2 [Gene - OMIM - HGNC]
  • ASPA:aspartoacylase [Gene - OMIM - HGNC]
  • AURKB:aurora kinase B [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]
  • CNTROB:centrobin, centriole duplication and spindle assembly protein [Gene - OMIM - HGNC]
  • CHRNB1:cholinergic receptor nicotinic beta 1 subunit [Gene - OMIM - HGNC]
  • CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
  • CHD3:chromodomain helicase DNA binding protein 3 [Gene - OMIM - HGNC]
  • C17orf100:chromosome 17 open reading frame 100 [Gene - HGNC]
  • C17orf107:chromosome 17 open reading frame 107 [Gene - HGNC]
  • CLDN7:claudin 7 [Gene - OMIM - HGNC]
  • CLUH:clustered mitochondria homolog [Gene - OMIM - HGNC]
  • C1QBP:complement C1q binding protein [Gene - OMIM - HGNC]
  • CTNS:cystinosin, lysosomal cystine transporter [Gene - OMIM - HGNC]
  • CYB5D1:cytochrome b5 domain containing 1 [Gene - HGNC]
  • CYB5D2:cytochrome b5 domain containing 2 [Gene - HGNC]
  • DERL2:derlin 2 [Gene - OMIM - HGNC]
  • DPH1:diphthamide biosynthesis 1 [Gene - OMIM - HGNC]
  • DLG4:discs large MAGUK scaffold protein 4 [Gene - OMIM - HGNC]
  • DVL2:dishevelled segment polarity protein 2 [Gene - OMIM - HGNC]
  • DNAH2:dynein axonemal heavy chain 2 [Gene - OMIM - HGNC]
  • ELP5:elongator acetyltransferase complex subunit 5 [Gene - OMIM - HGNC]
  • ENO3:enolase 3 [Gene - OMIM - HGNC]
  • EFNB3:ephrin B3 [Gene - OMIM - HGNC]
  • EIF4A1:eukaryotic translation initiation factor 4A1 [Gene - OMIM - HGNC]
  • EIF5A:eukaryotic translation initiation factor 5A [Gene - OMIM - HGNC]
  • FGF11:fibroblast growth factor 11 [Gene - OMIM - HGNC]
  • GGT6:gamma-glutamyltransferase 6 [Gene - OMIM - HGNC]
  • GEMIN4:gem nuclear organelle associated protein 4 [Gene - OMIM - HGNC]
  • GLTPD2:glycolipid transfer protein domain containing 2 [Gene - OMIM - HGNC]
  • GP1BA:glycoprotein Ib platelet subunit alpha [Gene - OMIM - HGNC]
  • GLOD4:glyoxalase domain containing 4 [Gene - OMIM - HGNC]
  • GUCY2D:guanylate cyclase 2D, retinal [Gene - OMIM - HGNC]
  • HES7:hes family bHLH transcription factor 7 [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]
  • KDM6B:lysine demethylase 6B [Gene - OMIM - HGNC]
  • MPDU1:mannose-P-dolichol utilization defect 1 [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]
  • MIR195:microRNA 195 [Gene - OMIM - HGNC]
  • MIR212:microRNA 212 [Gene - OMIM - HGNC]
  • MIR22:microRNA 22 [Gene - OMIM - HGNC]
  • MIR497HG:mir-497-195 cluster host gene [Gene - HGNC]
  • MINK1:misshapen like kinase 1 [Gene - OMIM - HGNC]
  • MRM3:mitochondrial rRNA methyltransferase 3 [Gene - OMIM - HGNC]
  • MYO1C:myosin IC [Gene - OMIM - HGNC]
  • NEURL4:neuralized E3 ubiquitin protein ligase 4 [Gene - OMIM - HGNC]
  • NLGN2:neuroligin 2 [Gene - OMIM - HGNC]
  • NCBP3:nuclear cap binding subunit 3 [Gene - OMIM - HGNC]
  • NUP88:nucleoporin 88 [Gene - OMIM - HGNC]
  • NXN:nucleoredoxin [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]
  • ODF4:outer dense fiber of sperm tails 4 [Gene - OMIM - HGNC]
  • PER1:period circadian regulator 1 [Gene - OMIM - HGNC]
  • PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
  • PLD2:phospholipase D2 [Gene - OMIM - HGNC]
  • PLSCR3:phospholipid scramblase 3 [Gene - OMIM - HGNC]
  • PFAS:phosphoribosylformylglycinamidine synthase [Gene - OMIM - HGNC]
  • PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
  • KCTD11:potassium channel tetramerization domain containing 11 [Gene - OMIM - HGNC]
  • KCNAB3:potassium voltage-gated channel subfamily A regulatory beta subunit 3 [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]
  • RNASEK:ribonuclease K [Gene - OMIM - HGNC]
  • RPL26:ribosomal protein L26 [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]
  • SHBG:sex hormone binding globulin [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]
  • SLC16A11:solute carrier family 16 member 11 [Gene - OMIM - HGNC]
  • SLC16A13:solute carrier family 16 member 13 [Gene - HGNC]
  • SLC2A4:solute carrier family 2 member 4 [Gene - OMIM - HGNC]
  • SLC25A11:solute carrier family 25 member 11 [Gene - OMIM - HGNC]
  • SLC25A35:solute carrier family 25 member 35 [Gene - OMIM - HGNC]
  • SLC35G6:solute carrier family 35 member G6 [Gene - 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]
  • SPEM1:spermatid maturation 1 [Gene - OMIM - HGNC]
  • SPATA22:spermatogenesis associated 22 [Gene - OMIM - HGNC]
  • SAT2:spermidine/spermine N1-acetyltransferase family member 2 [Gene - OMIM - HGNC]
  • TRR-TCT2-1:tRNA-Arg (anticodon TCT) 2-1 [Gene - OMIM - HGNC]
  • TRQ-CTG1-5:tRNA-Gln (anticodon CTG) 1-5 [Gene - OMIM - HGNC]
  • TRG-GCC2-6:tRNA-Gly (anticodon GCC) 2-6 [Gene - OMIM - HGNC]
  • TRL-TAG1-1:tRNA-Leu (anticodon TAG) 1-1 [Gene - OMIM - HGNC]
  • TRK-TTT3-5:tRNA-Lys (anticodon TTT) 3-5 [Gene - OMIM - HGNC]
  • TEKT1:tektin 1 [Gene - OMIM - HGNC]
  • TXNDC17:thioredoxin domain containing 17 [Gene - OMIM - HGNC]
  • TRAPPC1:trafficking protein particle complex subunit 1 [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]
  • TIMM22:translocase of inner mitochondrial membrane 22 [Gene - OMIM - HGNC]
  • TM4SF5:transmembrane 4 L six family member 5 [Gene - OMIM - HGNC]
  • TMEM102:transmembrane protein 102 [Gene - OMIM - HGNC]
  • TMEM107:transmembrane protein 107 [Gene - OMIM - HGNC]
  • TMEM256:transmembrane protein 256 [Gene - OMIM - HGNC]
  • TMEM88:transmembrane protein 88 [Gene - OMIM - HGNC]
  • TMEM95:transmembrane protein 95 [Gene - OMIM - HGNC]
  • TP53:tumor protein p53 [Gene - OMIM - HGNC]
  • YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]
  • TNK1:tyrosine kinase non receptor 1 [Gene - OMIM - HGNC]
  • UBE2G1:ubiquitin conjugating enzyme E2 G1 [Gene - OMIM - HGNC]
  • USP6:ubiquitin specific peptidase 6 [Gene - OMIM - HGNC]
  • LOC100288728:uncharacterized LOC100288728 [Gene]
  • VAMP2:vesicle associated membrane protein 2 [Gene - OMIM - HGNC]
  • 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]
  • ZBTB4:zinc finger and BTB domain containing 4 [Gene - OMIM - HGNC]
  • ZNF232:zinc finger protein 232 [Gene - OMIM - HGNC]
  • ZNF594:zinc finger protein 594 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
17p13.3-13.1
Genomic location:
Chr17: 422368 - 8285628 (on Assembly GRCh37)
Preferred name:
NC_000017.10:g.(?_422368)_(8285628_?)dup
HGVS:
NC_000017.10:g.(?_422368)_(8285628_?)dup

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV005066771Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Oct 18, 2022) 		unknownclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.

Silversides CK, Lionel AC, Costain G, Merico D, Migita O, Liu B, Yuen T, Rickaby J, Thiruvahindrapuram B, Marshall CR, Scherer SW, Bassett AS.

PLoS Genet. 2012;8(8):e1002843. doi: 10.1371/journal.pgen.1002843. Epub 2012 Aug 9.

PubMed [citation]
PMID:
22912587
PMCID:
PMC3415418

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group, Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV005066771.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. Isolated whole-gene copy number gains of NXN have not been reported in the literature. However, larger copy number events that include this gene have been reported (PMID: 22912587). A copy number gain of the genomic region encompassing the full coding sequence of the NXN gene has been identified. The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. As the precise location of this event is unknown, it may be in tandem or it may be located elsewhere in the genome.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024