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GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 11, 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:
RCV000053481.6

Allele description [Variation Report for GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3]

GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3

Genes:
  • ARL10:ADP ribosylation factor like GTPase 10 [Gene - HGNC]
  • LOC129995331:ATAC-STARR-seq lymphoblastoid active region 23680 [Gene]
  • LOC129995332:ATAC-STARR-seq lymphoblastoid active region 23681 [Gene]
  • LOC129995337:ATAC-STARR-seq lymphoblastoid active region 23684 [Gene]
  • LOC129995338:ATAC-STARR-seq lymphoblastoid active region 23685 [Gene]
  • LOC129995340:ATAC-STARR-seq lymphoblastoid active region 23686 [Gene]
  • LOC129995341:ATAC-STARR-seq lymphoblastoid active region 23687 [Gene]
  • LOC129995344:ATAC-STARR-seq lymphoblastoid active region 23688 [Gene]
  • LOC129995345:ATAC-STARR-seq lymphoblastoid active region 23689 [Gene]
  • LOC129995356:ATAC-STARR-seq lymphoblastoid active region 23691 [Gene]
  • LOC129995361:ATAC-STARR-seq lymphoblastoid active region 23693 [Gene]
  • LOC129995364:ATAC-STARR-seq lymphoblastoid active region 23699 [Gene]
  • LOC129995365:ATAC-STARR-seq lymphoblastoid active region 23700 [Gene]
  • LOC129995366:ATAC-STARR-seq lymphoblastoid active region 23701 [Gene]
  • LOC129995367:ATAC-STARR-seq lymphoblastoid active region 23702 [Gene]
  • LOC129995368:ATAC-STARR-seq lymphoblastoid active region 23703 [Gene]
  • LOC129995369:ATAC-STARR-seq lymphoblastoid active region 23704 [Gene]
  • LOC129995372:ATAC-STARR-seq lymphoblastoid active region 23705 [Gene]
  • LOC129995373:ATAC-STARR-seq lymphoblastoid active region 23706 [Gene]
  • LOC129995374:ATAC-STARR-seq lymphoblastoid active region 23708 [Gene]
  • LOC129995375:ATAC-STARR-seq lymphoblastoid active region 23709 [Gene]
  • LOC129995376:ATAC-STARR-seq lymphoblastoid active region 23710 [Gene]
  • LOC129995377:ATAC-STARR-seq lymphoblastoid active region 23711 [Gene]
  • LOC129995378:ATAC-STARR-seq lymphoblastoid active region 23712 [Gene]
  • LOC129995379:ATAC-STARR-seq lymphoblastoid active region 23717 [Gene]
  • LOC129995380:ATAC-STARR-seq lymphoblastoid active region 23718 [Gene]
  • LOC129995381:ATAC-STARR-seq lymphoblastoid active region 23719 [Gene]
  • LOC129995387:ATAC-STARR-seq lymphoblastoid active region 23720 [Gene]
  • LOC129995388:ATAC-STARR-seq lymphoblastoid active region 23721 [Gene]
  • LOC129995389:ATAC-STARR-seq lymphoblastoid active region 23722 [Gene]
  • LOC129995390:ATAC-STARR-seq lymphoblastoid active region 23723 [Gene]
  • LOC129995391:ATAC-STARR-seq lymphoblastoid active region 23724 [Gene]
  • LOC129995392:ATAC-STARR-seq lymphoblastoid active region 23725 [Gene]
  • LOC129995393:ATAC-STARR-seq lymphoblastoid active region 23726 [Gene]
  • LOC129995395:ATAC-STARR-seq lymphoblastoid active region 23727 [Gene]
  • LOC129995396:ATAC-STARR-seq lymphoblastoid active region 23728 [Gene]
  • LOC129995398:ATAC-STARR-seq lymphoblastoid active region 23731 [Gene]
  • LOC129995399:ATAC-STARR-seq lymphoblastoid active region 23732 [Gene]
  • LOC129995329:ATAC-STARR-seq lymphoblastoid silent region 16647 [Gene]
  • LOC129995330:ATAC-STARR-seq lymphoblastoid silent region 16648 [Gene]
  • LOC129995333:ATAC-STARR-seq lymphoblastoid silent region 16649 [Gene]
  • LOC129995334:ATAC-STARR-seq lymphoblastoid silent region 16650 [Gene]
  • LOC129995335:ATAC-STARR-seq lymphoblastoid silent region 16651 [Gene]
  • LOC129995336:ATAC-STARR-seq lymphoblastoid silent region 16652 [Gene]
  • LOC129995339:ATAC-STARR-seq lymphoblastoid silent region 16653 [Gene]
  • LOC129995342:ATAC-STARR-seq lymphoblastoid silent region 16654 [Gene]
  • LOC129995343:ATAC-STARR-seq lymphoblastoid silent region 16655 [Gene]
  • LOC129995346:ATAC-STARR-seq lymphoblastoid silent region 16656 [Gene]
  • LOC129995347:ATAC-STARR-seq lymphoblastoid silent region 16657 [Gene]
  • LOC129995348:ATAC-STARR-seq lymphoblastoid silent region 16658 [Gene]
  • LOC129995349:ATAC-STARR-seq lymphoblastoid silent region 16659 [Gene]
  • LOC129995350:ATAC-STARR-seq lymphoblastoid silent region 16660 [Gene]
  • LOC129995351:ATAC-STARR-seq lymphoblastoid silent region 16661 [Gene]
  • LOC129995352:ATAC-STARR-seq lymphoblastoid silent region 16662 [Gene]
  • LOC129995353:ATAC-STARR-seq lymphoblastoid silent region 16663 [Gene]
  • LOC129995354:ATAC-STARR-seq lymphoblastoid silent region 16664 [Gene]
  • LOC129995355:ATAC-STARR-seq lymphoblastoid silent region 16665 [Gene]
  • LOC129995357:ATAC-STARR-seq lymphoblastoid silent region 16666 [Gene]
  • LOC129995358:ATAC-STARR-seq lymphoblastoid silent region 16667 [Gene]
  • LOC129995359:ATAC-STARR-seq lymphoblastoid silent region 16668 [Gene]
  • LOC129995360:ATAC-STARR-seq lymphoblastoid silent region 16670 [Gene]
  • LOC129995362:ATAC-STARR-seq lymphoblastoid silent region 16676 [Gene]
  • LOC129995363:ATAC-STARR-seq lymphoblastoid silent region 16677 [Gene]
  • LOC129995370:ATAC-STARR-seq lymphoblastoid silent region 16680 [Gene]
  • LOC129995371:ATAC-STARR-seq lymphoblastoid silent region 16681 [Gene]
  • LOC129995382:ATAC-STARR-seq lymphoblastoid silent region 16688 [Gene]
  • LOC129995383:ATAC-STARR-seq lymphoblastoid silent region 16691 [Gene]
  • LOC129995384:ATAC-STARR-seq lymphoblastoid silent region 16692 [Gene]
  • LOC129995385:ATAC-STARR-seq lymphoblastoid silent region 16696 [Gene]
  • LOC129995386:ATAC-STARR-seq lymphoblastoid silent region 16700 [Gene]
  • LOC129995394:ATAC-STARR-seq lymphoblastoid silent region 16701 [Gene]
  • LOC129995397:ATAC-STARR-seq lymphoblastoid silent region 16702 [Gene]
  • LOC129995400:ATAC-STARR-seq lymphoblastoid silent region 16704 [Gene]
  • LOC129995401:ATAC-STARR-seq lymphoblastoid silent region 16705 [Gene]
  • LOC129995402:ATAC-STARR-seq lymphoblastoid silent region 16706 [Gene]
  • LOC126807621:BRD4-independent group 4 enhancer GRCh37_chr5:177020409-177021608 [Gene]
  • LOC126807616:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:175918968-175920167 [Gene]
  • LOC126807618:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176488686-176489885 [Gene]
  • LOC126807620:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:176728411-176729610 [Gene]
  • LOC116158533:CRISPRi-validated cis-regulatory element chr5.4836 [Gene]
  • LOC116158534:CRISPRi-validated cis-regulatory element chr5.4837 [Gene]
  • DDX41:DEAD-box helicase 41 [Gene - OMIM - HGNC]
  • LOC109279841:FGFR4 5' regulatory region [Gene]
  • FAF2:Fas associated factor family member 2 [Gene - OMIM - HGNC]
  • GPRIN1:G protein regulated inducer of neurite outgrowth 1 [Gene - OMIM - HGNC]
  • GRK6:G protein-coupled receptor kinase 6 [Gene - OMIM - HGNC]
  • HIGD2A:HIG1 hypoxia inducible domain family member 2A [Gene - OMIM - HGNC]
  • KIAA1191:KIAA1191 [Gene - HGNC]
  • MXD3:MAX dimerization protein 3 [Gene - OMIM - HGNC]
  • LOC126807615:MED14-independent group 3 enhancer GRCh37_chr5:175815238-175816437 [Gene]
  • LOC126807619:MED14-independent group 3 enhancer GRCh37_chr5:176696443-176697642 [Gene]
  • LOC129389417:MPRA-validated peak5588 silencer [Gene]
  • LOC129389418:MPRA-validated peak5589 silencer [Gene]
  • LOC129389419:MPRA-validated peak5592 silencer [Gene]
  • NOP16:NOP16 nucleolar protein [Gene - OMIM - HGNC]
  • LOC126807617:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:176214607-176215806 [Gene]
  • PDLIM7:PDZ and LIM domain 7 [Gene - OMIM - HGNC]
  • PRELID1:PRELI domain containing 1 [Gene - OMIM - HGNC]
  • PRR7-AS1:PRR7 antisense RNA 1 [Gene - HGNC]
  • RAB24:RAB24, member RAS oncogene family [Gene - OMIM - HGNC]
  • SIMC1:SUMO interacting motifs containing 1 [Gene - OMIM - HGNC]
  • LOC114004391:Sharpr-MPRA regulatory region 11151 [Gene]
  • LOC121099716:Sharpr-MPRA regulatory region 13731 [Gene]
  • LOC121099718:Sharpr-MPRA regulatory region 15492 [Gene]
  • LOC121099717:Sharpr-MPRA regulatory region 1974 [Gene]
  • LOC121099715:Sharpr-MPRA regulatory region 4950 [Gene]
  • LOC123575629:Sharpr-MPRA regulatory region 4969 [Gene]
  • LOC123575631:Sharpr-MPRA regulatory region 583 [Gene]
  • LOC123575630:Sharpr-MPRA regulatory region 7457 [Gene]
  • LOC121740633:Sharpr-MPRA regulatory region 75 [Gene]
  • LOC110121241:VISTA enhancer hs2007 [Gene]
  • LOC110121284:VISTA enhancer hs2229 [Gene]
  • B4GALT7:beta-1,4-galactosyltransferase 7 [Gene - OMIM - HGNC]
  • CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
  • CLTB:clathrin light chain B [Gene - OMIM - HGNC]
  • F12:coagulation factor XII [Gene - OMIM - HGNC]
  • DOK3:docking protein 3 [Gene - OMIM - HGNC]
  • DBN1:drebrin 1 [Gene - OMIM - HGNC]
  • EIF4E1B:eukaryotic translation initiation factor 4E family member 1B [Gene - HGNC]
  • FAM153A:family with sequence similarity 153 member A [Gene - HGNC]
  • FAM193B:family with sequence similarity 193 member B [Gene - OMIM - HGNC]
  • FGFR4:fibroblast growth factor receptor 4 [Gene - OMIM - HGNC]
  • HK3:hexokinase 3 [Gene - OMIM - HGNC]
  • LMAN2:lectin, mannose binding 2 [Gene - OMIM - HGNC]
  • LINC01574:long intergenic non-protein coding RNA 1574 [Gene - HGNC]
  • MIR1271:microRNA 1271 [Gene - HGNC]
  • MIR4281:microRNA 4281 [Gene - HGNC]
  • NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
  • PFN3:profilin 3 [Gene - OMIM - HGNC]
  • PRR7:proline rich 7, synaptic [Gene - OMIM - HGNC]
  • RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]
  • RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
  • SLC34A1:solute carrier family 34 member 1 [Gene - OMIM - HGNC]
  • SNCB:synuclein beta [Gene - OMIM - HGNC]
  • TSPAN17:tetraspanin 17 [Gene - OMIM - HGNC]
  • TMED9:transmembrane p24 trafficking protein 9 [Gene - OMIM - HGNC]
  • UIMC1:ubiquitin interaction motif containing 1 [Gene - OMIM - HGNC]
  • UNC5A:unc-5 netrin receptor A [Gene - OMIM - HGNC]
  • ZNF346:zinc finger protein 346 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
5q35.2-35.3
Genomic location:
Preferred name:
GRCh38/hg38 5q35.2-35.3(chr5:176149599-177716401)x3
HGVS:
  • NC_000005.10:g.(?_176149599)_(177716401_?)dup
  • NC_000005.8:g.(?_175509208)_(177076008_?)dup
  • NC_000005.9:g.(?_175576602)_(177143402_?)dup
Links:
dbVar: nssv576892; dbVar: nsv532162
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
SCV000080839ISCA site 15

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 11, 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

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 15, SCV000080839.5

#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