U.S. flag

An official website of the United States government

GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000052113.5

Allele description [Variation Report for GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1]

GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1

Genes:
  • AFF4-DT:AFF4 divergent transcript [Gene - HGNC]
  • AFF4:ALF transcription elongation factor 4 [Gene - OMIM - HGNC]
  • LOC129994614:ATAC-STARR-seq lymphoblastoid active region 23097 [Gene]
  • LOC129994616:ATAC-STARR-seq lymphoblastoid active region 23101 [Gene]
  • LOC129994617:ATAC-STARR-seq lymphoblastoid active region 23103 [Gene]
  • LOC129994618:ATAC-STARR-seq lymphoblastoid active region 23104 [Gene]
  • LOC129994621:ATAC-STARR-seq lymphoblastoid active region 23105 [Gene]
  • LOC129994622:ATAC-STARR-seq lymphoblastoid active region 23106 [Gene]
  • LOC129994623:ATAC-STARR-seq lymphoblastoid active region 23107 [Gene]
  • LOC129994625:ATAC-STARR-seq lymphoblastoid active region 23109 [Gene]
  • LOC129994626:ATAC-STARR-seq lymphoblastoid active region 23110 [Gene]
  • LOC129994627:ATAC-STARR-seq lymphoblastoid active region 23111 [Gene]
  • LOC129994628:ATAC-STARR-seq lymphoblastoid active region 23112 [Gene]
  • LOC129994629:ATAC-STARR-seq lymphoblastoid active region 23113 [Gene]
  • LOC129994630:ATAC-STARR-seq lymphoblastoid active region 23114 [Gene]
  • LOC129994634:ATAC-STARR-seq lymphoblastoid active region 23115 [Gene]
  • LOC129994635:ATAC-STARR-seq lymphoblastoid active region 23116 [Gene]
  • LOC129994636:ATAC-STARR-seq lymphoblastoid active region 23117 [Gene]
  • LOC129994637:ATAC-STARR-seq lymphoblastoid active region 23118 [Gene]
  • LOC129994638:ATAC-STARR-seq lymphoblastoid active region 23119 [Gene]
  • LOC129994639:ATAC-STARR-seq lymphoblastoid active region 23120 [Gene]
  • LOC129994642:ATAC-STARR-seq lymphoblastoid active region 23121 [Gene]
  • LOC129994643:ATAC-STARR-seq lymphoblastoid active region 23122 [Gene]
  • LOC129994644:ATAC-STARR-seq lymphoblastoid active region 23123 [Gene]
  • LOC129994645:ATAC-STARR-seq lymphoblastoid active region 23125 [Gene]
  • LOC129994647:ATAC-STARR-seq lymphoblastoid active region 23126 [Gene]
  • LOC129994648:ATAC-STARR-seq lymphoblastoid active region 23127 [Gene]
  • LOC129994650:ATAC-STARR-seq lymphoblastoid active region 23128 [Gene]
  • LOC129994651:ATAC-STARR-seq lymphoblastoid active region 23129 [Gene]
  • LOC129994652:ATAC-STARR-seq lymphoblastoid active region 23130 [Gene]
  • LOC129994653:ATAC-STARR-seq lymphoblastoid active region 23131 [Gene]
  • LOC129994654:ATAC-STARR-seq lymphoblastoid active region 23132 [Gene]
  • LOC129994655:ATAC-STARR-seq lymphoblastoid active region 23133 [Gene]
  • LOC129994656:ATAC-STARR-seq lymphoblastoid active region 23134 [Gene]
  • LOC129994657:ATAC-STARR-seq lymphoblastoid active region 23135 [Gene]
  • LOC129994658:ATAC-STARR-seq lymphoblastoid active region 23136 [Gene]
  • LOC129994660:ATAC-STARR-seq lymphoblastoid active region 23137 [Gene]
  • LOC129994661:ATAC-STARR-seq lymphoblastoid active region 23138 [Gene]
  • LOC129994662:ATAC-STARR-seq lymphoblastoid active region 23139 [Gene]
  • LOC129994663:ATAC-STARR-seq lymphoblastoid active region 23141 [Gene]
  • LOC129994665:ATAC-STARR-seq lymphoblastoid active region 23143 [Gene]
  • LOC129994666:ATAC-STARR-seq lymphoblastoid active region 23147 [Gene]
  • LOC129994674:ATAC-STARR-seq lymphoblastoid active region 23150 [Gene]
  • LOC129994675:ATAC-STARR-seq lymphoblastoid active region 23151 [Gene]
  • LOC129994676:ATAC-STARR-seq lymphoblastoid active region 23152 [Gene]
  • LOC129994677:ATAC-STARR-seq lymphoblastoid active region 23153 [Gene]
  • LOC129994678:ATAC-STARR-seq lymphoblastoid active region 23154 [Gene]
  • LOC129994679:ATAC-STARR-seq lymphoblastoid active region 23155 [Gene]
  • LOC129994681:ATAC-STARR-seq lymphoblastoid active region 23156 [Gene]
  • LOC129994682:ATAC-STARR-seq lymphoblastoid active region 23157 [Gene]
  • LOC129994683:ATAC-STARR-seq lymphoblastoid active region 23158 [Gene]
  • LOC129994685:ATAC-STARR-seq lymphoblastoid active region 23159 [Gene]
  • LOC129994686:ATAC-STARR-seq lymphoblastoid active region 23161 [Gene]
  • LOC129994687:ATAC-STARR-seq lymphoblastoid active region 23162 [Gene]
  • LOC129994688:ATAC-STARR-seq lymphoblastoid active region 23163 [Gene]
  • LOC129994689:ATAC-STARR-seq lymphoblastoid active region 23166 [Gene]
  • LOC129994690:ATAC-STARR-seq lymphoblastoid active region 23167 [Gene]
  • LOC129994692:ATAC-STARR-seq lymphoblastoid active region 23168 [Gene]
  • LOC129994693:ATAC-STARR-seq lymphoblastoid active region 23169 [Gene]
  • LOC129994608:ATAC-STARR-seq lymphoblastoid silent region 16339 [Gene]
  • LOC129994609:ATAC-STARR-seq lymphoblastoid silent region 16340 [Gene]
  • LOC129994610:ATAC-STARR-seq lymphoblastoid silent region 16341 [Gene]
  • LOC129994611:ATAC-STARR-seq lymphoblastoid silent region 16342 [Gene]
  • LOC129994612:ATAC-STARR-seq lymphoblastoid silent region 16343 [Gene]
  • LOC129994613:ATAC-STARR-seq lymphoblastoid silent region 16344 [Gene]
  • LOC129994615:ATAC-STARR-seq lymphoblastoid silent region 16345 [Gene]
  • LOC129994619:ATAC-STARR-seq lymphoblastoid silent region 16346 [Gene]
  • LOC129994620:ATAC-STARR-seq lymphoblastoid silent region 16347 [Gene]
  • LOC129994624:ATAC-STARR-seq lymphoblastoid silent region 16348 [Gene]
  • LOC129994631:ATAC-STARR-seq lymphoblastoid silent region 16349 [Gene]
  • LOC129994632:ATAC-STARR-seq lymphoblastoid silent region 16350 [Gene]
  • LOC129994633:ATAC-STARR-seq lymphoblastoid silent region 16351 [Gene]
  • LOC129994640:ATAC-STARR-seq lymphoblastoid silent region 16352 [Gene]
  • LOC129994641:ATAC-STARR-seq lymphoblastoid silent region 16353 [Gene]
  • LOC129994646:ATAC-STARR-seq lymphoblastoid silent region 16354 [Gene]
  • LOC129994649:ATAC-STARR-seq lymphoblastoid silent region 16355 [Gene]
  • LOC129994659:ATAC-STARR-seq lymphoblastoid silent region 16356 [Gene]
  • LOC129994664:ATAC-STARR-seq lymphoblastoid silent region 16357 [Gene]
  • LOC129994667:ATAC-STARR-seq lymphoblastoid silent region 16358 [Gene]
  • LOC129994668:ATAC-STARR-seq lymphoblastoid silent region 16359 [Gene]
  • LOC129994669:ATAC-STARR-seq lymphoblastoid silent region 16360 [Gene]
  • LOC129994670:ATAC-STARR-seq lymphoblastoid silent region 16361 [Gene]
  • LOC129994671:ATAC-STARR-seq lymphoblastoid silent region 16362 [Gene]
  • LOC129994672:ATAC-STARR-seq lymphoblastoid silent region 16363 [Gene]
  • LOC129994673:ATAC-STARR-seq lymphoblastoid silent region 16364 [Gene]
  • LOC129994680:ATAC-STARR-seq lymphoblastoid silent region 16365 [Gene]
  • LOC129994684:ATAC-STARR-seq lymphoblastoid silent region 16366 [Gene]
  • LOC129994691:ATAC-STARR-seq lymphoblastoid silent region 16372 [Gene]
  • LOC126807509:BRD4-independent group 4 enhancer GRCh37_chr5:132201613-132202812 [Gene]
  • LOC126807510:BRD4-independent group 4 enhancer GRCh37_chr5:132555882-132557081 [Gene]
  • LOC126807514:BRD4-independent group 4 enhancer GRCh37_chr5:133078188-133079387 [Gene]
  • LOC126807513:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:132793114-132794313 [Gene]
  • LOC126807515:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:133771909-133773108 [Gene]
  • LOC126807517:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:134582317-134583516 [Gene]
  • LOC126807518:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:134678129-134679328 [Gene]
  • CDKN2AIPNL:CDKN2A interacting protein N-terminal like [Gene - HGNC]
  • DDX46:DEAD-box helicase 46 [Gene - OMIM - HGNC]
  • LOC111500310:HNF4 motif-containing MPRA enhancer 267 [Gene]
  • LOC129389363:MPRA-validated peak5467 silencer [Gene]
  • LOC129389364:MPRA-validated peak5468 silencer [Gene]
  • LOC129389365:MPRA-validated peak5470 silencer [Gene]
  • LOC129389366:MPRA-validated peak5471 silencer [Gene]
  • LOC129389367:MPRA-validated peak5475 silencer [Gene]
  • LOC129389368:MPRA-validated peak5476 silencer [Gene]
  • LOC129389369:MPRA-validated peak5478 silencer [Gene]
  • LOC126807511:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:132581181-132582380 [Gene]
  • LOC126807512:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:132706200-132707399 [Gene]
  • LOC126807516:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:134360625-134361824 [Gene]
  • PITX1-AS1:PITX1 antisense RNA 1 [Gene - HGNC]
  • PPP2CA-DT:PPP2CA divergent transcript [Gene - HGNC]
  • SKP1:S-phase kinase associated protein 1 [Gene - OMIM - HGNC]
  • SEC24A:SEC24 homolog A, COPII coat complex component [Gene - OMIM - HGNC]
  • LOC123497970:Sharpr-MPRA regulatory region 10905 [Gene]
  • LOC123497972:Sharpr-MPRA regulatory region 11731 [Gene]
  • LOC123497971:Sharpr-MPRA regulatory region 12956 [Gene]
  • LOC121099702:Sharpr-MPRA regulatory region 13334 [Gene]
  • LOC121079962:Sharpr-MPRA regulatory region 5371 [Gene]
  • LOC121099701:Sharpr-MPRA regulatory region 9043 [Gene]
  • WSPAR:WNT signaling pathway activating non-coding RNA [Gene - OMIM - HGNC]
  • CAMLG:calcium modulating ligand [Gene - OMIM - HGNC]
  • CATSPER3:cation channel sperm associated 3 [Gene - OMIM - HGNC]
  • C5orf15:chromosome 5 open reading frame 15 [Gene - HGNC]
  • C5orf24:chromosome 5 open reading frame 24 [Gene - HGNC]
  • CDKL3:cyclin dependent kinase like 3 [Gene - OMIM - HGNC]
  • EPIST:esophagus epithelial intergenic associated transcript [Gene - HGNC]
  • FSTL4:follistatin like 4 [Gene - HGNC]
  • GDF9:growth differentiation factor 9 [Gene - OMIM - HGNC]
  • HSPA4:heat shock protein family A (Hsp70) member 4 [Gene - OMIM - HGNC]
  • JADE2:jade family PHD finger 2 [Gene - OMIM - HGNC]
  • LEAP2:liver enriched antimicrobial peptide 2 [Gene - OMIM - HGNC]
  • LINC01843:long intergenic non-protein coding RNA 1843 [Gene - HGNC]
  • LINC02900:long intergenic non-protein coding RNA 2900 [Gene - HGNC]
  • LINC02999:long intergenic non-protein coding RNA 2999 [Gene - HGNC]
  • MACROH2A1:macroH2A.1 histone [Gene - OMIM - HGNC]
  • MIR1289-2:microRNA 1289-2 [Gene - HGNC]
  • MIR3661:microRNA 3661 [Gene - HGNC]
  • PITX1:paired like homeodomain 1 [Gene - OMIM - HGNC]
  • PPP2CA:protein phosphatase 2 catalytic subunit alpha [Gene - OMIM - HGNC]
  • PCBD2:pterin-4 alpha-carbinolamine dehydratase 2 [Gene - OMIM - HGNC]
  • SAR1B:secretion associated Ras related GTPase 1B [Gene - OMIM - HGNC]
  • SHROOM1:shroom family member 1 [Gene - OMIM - HGNC]
  • SOWAHA:sosondowah ankyrin repeat domain family member A [Gene - HGNC]
  • TXNDC15:thioredoxin domain containing 15 [Gene - OMIM - HGNC]
  • TCF7:transcription factor 7 [Gene - OMIM - HGNC]
  • UQCRQ:ubiquinol-cytochrome c reductase complex III subunit VII [Gene - OMIM - HGNC]
  • UBE2B:ubiquitin conjugating enzyme E2 B [Gene - OMIM - HGNC]
  • LOC105379183:uncharacterized LOC105379183 [Gene]
  • VDAC1:voltage dependent anion channel 1 [Gene - OMIM - HGNC]
  • ZCCHC10:zinc finger CCHC-type containing 10 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5q31.1
Genomic location:
Preferred name:
GRCh38/hg38 5q31.1(chr5:132816203-135383158)x1
HGVS:
  • NC_000005.10:g.(?_132816203)_(135383158_?)del
  • NC_000005.8:g.(?_132179794)_(134746747_?)del
  • NC_000005.9:g.(?_132151895)_(134718848_?)del
Links:
dbVar: nssv578082; dbVar: nsv530824
Observations:
1

Condition(s)

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000079462ISCA site 15

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 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, SCV000079462.4

#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