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GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
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:
RCV000142647.5

Allele description

GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3

Genes:
  • ARL10:ADP ribosylation factor like GTPase 10 [Gene - HGNC]
  • LOC129995296:ATAC-STARR-seq lymphoblastoid active region 23652 [Gene]
  • LOC129995297:ATAC-STARR-seq lymphoblastoid active region 23653 [Gene]
  • LOC129995299:ATAC-STARR-seq lymphoblastoid active region 23654 [Gene]
  • LOC129995302:ATAC-STARR-seq lymphoblastoid active region 23655 [Gene]
  • LOC129995303:ATAC-STARR-seq lymphoblastoid active region 23656 [Gene]
  • LOC129995304:ATAC-STARR-seq lymphoblastoid active region 23657 [Gene]
  • LOC129995305:ATAC-STARR-seq lymphoblastoid active region 23658 [Gene]
  • LOC129995306:ATAC-STARR-seq lymphoblastoid active region 23659 [Gene]
  • LOC129995307:ATAC-STARR-seq lymphoblastoid active region 23660 [Gene]
  • LOC129995309:ATAC-STARR-seq lymphoblastoid active region 23661 [Gene]
  • LOC129995310:ATAC-STARR-seq lymphoblastoid active region 23662 [Gene]
  • LOC129995311:ATAC-STARR-seq lymphoblastoid active region 23663 [Gene]
  • LOC129995312:ATAC-STARR-seq lymphoblastoid active region 23665 [Gene]
  • LOC129995313:ATAC-STARR-seq lymphoblastoid active region 23666 [Gene]
  • LOC129995314:ATAC-STARR-seq lymphoblastoid active region 23667 [Gene]
  • LOC129995315:ATAC-STARR-seq lymphoblastoid active region 23668 [Gene]
  • LOC129995316:ATAC-STARR-seq lymphoblastoid active region 23669 [Gene]
  • LOC129995317:ATAC-STARR-seq lymphoblastoid active region 23670 [Gene]
  • LOC129995318:ATAC-STARR-seq lymphoblastoid active region 23671 [Gene]
  • LOC129995319:ATAC-STARR-seq lymphoblastoid active region 23672 [Gene]
  • LOC129995320:ATAC-STARR-seq lymphoblastoid active region 23673 [Gene]
  • LOC129995321:ATAC-STARR-seq lymphoblastoid active region 23674 [Gene]
  • LOC129995323:ATAC-STARR-seq lymphoblastoid active region 23675 [Gene]
  • LOC129995325:ATAC-STARR-seq lymphoblastoid active region 23676 [Gene]
  • 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]
  • LOC129995295:ATAC-STARR-seq lymphoblastoid silent region 16637 [Gene]
  • LOC129995298:ATAC-STARR-seq lymphoblastoid silent region 16638 [Gene]
  • LOC129995300:ATAC-STARR-seq lymphoblastoid silent region 16639 [Gene]
  • LOC129995301:ATAC-STARR-seq lymphoblastoid silent region 16640 [Gene]
  • LOC129995308:ATAC-STARR-seq lymphoblastoid silent region 16641 [Gene]
  • LOC129995322:ATAC-STARR-seq lymphoblastoid silent region 16642 [Gene]
  • LOC129995324:ATAC-STARR-seq lymphoblastoid silent region 16643 [Gene]
  • LOC129995326:ATAC-STARR-seq lymphoblastoid silent region 16644 [Gene]
  • LOC129995327:ATAC-STARR-seq lymphoblastoid silent region 16645 [Gene]
  • LOC129995328:ATAC-STARR-seq lymphoblastoid silent region 16646 [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]
  • LOC126807611:BRD4-independent group 4 enhancer GRCh37_chr5:173999018-174000217 [Gene]
  • LOC126807613:BRD4-independent group 4 enhancer GRCh37_chr5:174697681-174698880 [Gene]
  • LOC126807607:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:173390440-173391639 [Gene]
  • LOC126807610:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:173958925-173960124 [Gene]
  • LOC126807612:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:174550039-174551238 [Gene]
  • LOC126807616:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:175918968-175920167 [Gene]
  • LOC116158528:CRISPRi-validated cis-regulatory element chr5.4552 [Gene]
  • LOC116158530:CRISPRi-validated cis-regulatory element chr5.4558 [Gene]
  • LOC116158531:CRISPRi-validated cis-regulatory element chr5.4561 [Gene]
  • LOC116158532:CRISPRi-validated cis-regulatory element chr5.4562 [Gene]
  • FAF2:Fas associated factor family member 2 [Gene - OMIM - HGNC]
  • GPRIN1:G protein regulated inducer of neurite outgrowth 1 [Gene - OMIM - HGNC]
  • HIGD2A:HIG1 hypoxia inducible domain family member 2A [Gene - HGNC]
  • KIAA1191:KIAA1191 [Gene - HGNC]
  • LOC126807603:MED14-independent group 3 enhancer GRCh37_chr5:172743860-172745059 [Gene]
  • LOC126807605:MED14-independent group 3 enhancer GRCh37_chr5:172995751-172996950 [Gene]
  • LOC121099714:MED14-independent group 3 enhancer GRCh37_chr5:173204773-173205972 [Gene]
  • LOC126807608:MED14-independent group 3 enhancer GRCh37_chr5:173755250-173756449 [Gene]
  • LOC126807615:MED14-independent group 3 enhancer GRCh37_chr5:175815238-175816437 [Gene]
  • LOC129389414:MPRA-validated peak5581 silencer [Gene]
  • LOC129389415:MPRA-validated peak5582 silencer [Gene]
  • LOC129389416:MPRA-validated peak5585 silencer [Gene]
  • LOC129389417:MPRA-validated peak5588 silencer [Gene]
  • LOC111500319:NFE2L2 motif-containing MPRA enhancer 276 [Gene]
  • NOP16:NOP16 nucleolar protein [Gene - OMIM - HGNC]
  • LOC126807604:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:172881780-172882979 [Gene]
  • LOC126807606:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:173059934-173061133 [Gene]
  • LOC126807609:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:173762765-173763964 [Gene]
  • LOC126807614:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:174943953-174945152 [Gene]
  • LOC105980006:PLCR-B recombination region [Gene]
  • SIMC1:SUMO interacting motifs containing 1 [Gene - OMIM - HGNC]
  • LOC114004391:Sharpr-MPRA regulatory region 11151 [Gene]
  • LOC123575625:Sharpr-MPRA regulatory region 11389 [Gene]
  • LOC112997578:Sharpr-MPRA regulatory region 12084 [Gene]
  • LOC123575628:Sharpr-MPRA regulatory region 12759 [Gene]
  • LOC112997580:Sharpr-MPRA regulatory region 12912 [Gene]
  • LOC123575622:Sharpr-MPRA regulatory region 12964 [Gene]
  • LOC123575623:Sharpr-MPRA regulatory region 13797 [Gene]
  • LOC121740632:Sharpr-MPRA regulatory region 2476 [Gene]
  • LOC123575626:Sharpr-MPRA regulatory region 3886 [Gene]
  • LOC123575624:Sharpr-MPRA regulatory region 4386 [Gene]
  • LOC123575629:Sharpr-MPRA regulatory region 4969 [Gene]
  • LOC123575630:Sharpr-MPRA regulatory region 7457 [Gene]
  • LOC123575627:Sharpr-MPRA regulatory region 8396 [Gene]
  • LOC112997579:Sharpr-MPRA regulatory region 8865 [Gene]
  • THOC3:THO complex subunit 3 [Gene - OMIM - HGNC]
  • THOC3-AS1:THOC3 antisense RNA 1 [Gene - HGNC]
  • LOC110121041:VISTA enhancer hs1256 [Gene]
  • LOC110121272:VISTA enhancer hs2185 [Gene]
  • BOD1:biorientation of chromosomes in cell division 1 [Gene - OMIM - HGNC]
  • CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
  • C5orf47:chromosome 5 open reading frame 47 [Gene - OMIM - HGNC]
  • CLTB:clathrin light chain B [Gene - OMIM - HGNC]
  • CPLX2:complexin 2 [Gene - OMIM - HGNC]
  • CPEB4:cytoplasmic polyadenylation element binding protein 4 [Gene - OMIM - HGNC]
  • DRD1:dopamine receptor D1 [Gene - OMIM - HGNC]
  • FAM153B:family with sequence similarity 153 member B [Gene - HGNC]
  • HRH2:histamine receptor H2 [Gene - OMIM - HGNC]
  • LINC01411:long intergenic non-protein coding RNA 1411 [Gene - HGNC]
  • LINC01484:long intergenic non-protein coding RNA 1484 [Gene - HGNC]
  • LINC01485:long intergenic non-protein coding RNA 1485 [Gene - HGNC]
  • LINC01942:long intergenic non-protein coding RNA 1942 [Gene - HGNC]
  • LINC01951:long intergenic non-protein coding RNA 1951 [Gene - HGNC]
  • LINC02995:long intergenic non-protein coding RNA 2995 [Gene - HGNC]
  • MIR12118:microRNA 12118 [Gene - HGNC]
  • MIR1271:microRNA 1271 [Gene - HGNC]
  • MIR4634:microRNA 4634 [Gene - HGNC]
  • MIR8056:microRNA 8056 [Gene - HGNC]
  • MSX2:msh homeobox 2 [Gene - OMIM - HGNC]
  • NSG2:neuronal vesicle trafficking associated 2 [Gene - OMIM - HGNC]
  • RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
  • SFXN1:sideroflexin 1 [Gene - OMIM - HGNC]
  • STC2:stanniocalcin 2 [Gene - OMIM - HGNC]
  • LOC100996385:uncharacterized LOC100996385 [Gene]
  • LOC102724551:uncharacterized LOC102724551 [Gene]
Variant type:
copy number gain
Cytogenetic location:
5q35.1-35.2
Genomic location:
Preferred name:
GRCh38/hg38 5q35.1-35.2(chr5:173237772-176614618)x3
HGVS:
  • NC_000005.10:g.(?_173237772)_(176614618_?)dup
  • NC_000005.8:g.(?_172597381)_(175974225_?)dup
  • NC_000005.9:g.(?_172664775)_(176041619_?)dup
Links:
dbVar: nssv582951; dbVar: nsv533814
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
SCV000176584ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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 1, SCV000176584.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023