U.S. flag

An official website of the United States government

GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 27, 2013
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:
RCV000142877.5

Allele description [Variation Report for GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4]

GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4

Genes:
  • ADPRH:ADP-ribosylarginine hydrolase [Gene - OMIM - HGNC]
  • ARHGAP31-AS1:ARHGAP31 antisense RNA 1 [Gene - HGNC]
  • LOC129937292:ATAC-STARR-seq lymphoblastoid active region 20288 [Gene]
  • LOC129937293:ATAC-STARR-seq lymphoblastoid active region 20289 [Gene]
  • LOC129937294:ATAC-STARR-seq lymphoblastoid active region 20290 [Gene]
  • LOC129937295:ATAC-STARR-seq lymphoblastoid active region 20291 [Gene]
  • LOC129937296:ATAC-STARR-seq lymphoblastoid active region 20292 [Gene]
  • LOC129937297:ATAC-STARR-seq lymphoblastoid active region 20293 [Gene]
  • LOC129937301:ATAC-STARR-seq lymphoblastoid active region 20294 [Gene]
  • LOC129937302:ATAC-STARR-seq lymphoblastoid active region 20295 [Gene]
  • LOC129937304:ATAC-STARR-seq lymphoblastoid active region 20296 [Gene]
  • LOC129937305:ATAC-STARR-seq lymphoblastoid active region 20297 [Gene]
  • LOC129937306:ATAC-STARR-seq lymphoblastoid active region 20298 [Gene]
  • LOC129937307:ATAC-STARR-seq lymphoblastoid active region 20299 [Gene]
  • LOC129937308:ATAC-STARR-seq lymphoblastoid active region 20301 [Gene]
  • LOC129937309:ATAC-STARR-seq lymphoblastoid active region 20302 [Gene]
  • LOC129937310:ATAC-STARR-seq lymphoblastoid active region 20304 [Gene]
  • LOC129937311:ATAC-STARR-seq lymphoblastoid active region 20305 [Gene]
  • LOC129937312:ATAC-STARR-seq lymphoblastoid active region 20306 [Gene]
  • LOC129937313:ATAC-STARR-seq lymphoblastoid active region 20307 [Gene]
  • LOC129937314:ATAC-STARR-seq lymphoblastoid active region 20308 [Gene]
  • LOC129937315:ATAC-STARR-seq lymphoblastoid active region 20309 [Gene]
  • LOC129937316:ATAC-STARR-seq lymphoblastoid active region 20310 [Gene]
  • LOC129937317:ATAC-STARR-seq lymphoblastoid active region 20311 [Gene]
  • LOC129937318:ATAC-STARR-seq lymphoblastoid active region 20312 [Gene]
  • LOC129937320:ATAC-STARR-seq lymphoblastoid active region 20314 [Gene]
  • LOC129937321:ATAC-STARR-seq lymphoblastoid active region 20316 [Gene]
  • LOC129937322:ATAC-STARR-seq lymphoblastoid active region 20317 [Gene]
  • LOC129937323:ATAC-STARR-seq lymphoblastoid active region 20318 [Gene]
  • LOC129937324:ATAC-STARR-seq lymphoblastoid active region 20319 [Gene]
  • LOC129937325:ATAC-STARR-seq lymphoblastoid active region 20320 [Gene]
  • LOC129937326:ATAC-STARR-seq lymphoblastoid active region 20321 [Gene]
  • LOC129937327:ATAC-STARR-seq lymphoblastoid active region 20322 [Gene]
  • LOC129937328:ATAC-STARR-seq lymphoblastoid active region 20324 [Gene]
  • LOC129937329:ATAC-STARR-seq lymphoblastoid active region 20325 [Gene]
  • LOC129937330:ATAC-STARR-seq lymphoblastoid active region 20327 [Gene]
  • LOC129937331:ATAC-STARR-seq lymphoblastoid active region 20328 [Gene]
  • LOC129937333:ATAC-STARR-seq lymphoblastoid active region 20330 [Gene]
  • LOC129937334:ATAC-STARR-seq lymphoblastoid active region 20331 [Gene]
  • LOC129937337:ATAC-STARR-seq lymphoblastoid active region 20332 [Gene]
  • LOC129937338:ATAC-STARR-seq lymphoblastoid active region 20333 [Gene]
  • LOC129937339:ATAC-STARR-seq lymphoblastoid active region 20334 [Gene]
  • LOC129937340:ATAC-STARR-seq lymphoblastoid active region 20335 [Gene]
  • LOC129937341:ATAC-STARR-seq lymphoblastoid active region 20339 [Gene]
  • LOC129937298:ATAC-STARR-seq lymphoblastoid silent region 14624 [Gene]
  • LOC129937299:ATAC-STARR-seq lymphoblastoid silent region 14625 [Gene]
  • LOC129937300:ATAC-STARR-seq lymphoblastoid silent region 14626 [Gene]
  • LOC129937303:ATAC-STARR-seq lymphoblastoid silent region 14627 [Gene]
  • LOC129937319:ATAC-STARR-seq lymphoblastoid silent region 14631 [Gene]
  • LOC129937332:ATAC-STARR-seq lymphoblastoid silent region 14634 [Gene]
  • LOC129937335:ATAC-STARR-seq lymphoblastoid silent region 14635 [Gene]
  • LOC129937336:ATAC-STARR-seq lymphoblastoid silent region 14636 [Gene]
  • B4GALT4-AS1:B4GALT4 antisense RNA 1 [Gene - HGNC]
  • LOC126806781:BRD4-independent group 4 enhancer GRCh37_chr3:119300593-119301792 [Gene]
  • LOC126806784:BRD4-independent group 4 enhancer GRCh37_chr3:119961559-119962758 [Gene]
  • LOC126806786:BRD4-independent group 4 enhancer GRCh37_chr3:120360644-120361843 [Gene]
  • CD80:CD80 molecule [Gene - OMIM - HGNC]
  • LOC126806780:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:117828563-117829762 [Gene]
  • LOC126806785:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:120085712-120086911 [Gene]
  • LOC115995517:CRISPRi-validated cis-regulatory element chr3.3352 [Gene]
  • GPR156:G protein-coupled receptor 156 [Gene - OMIM - HGNC]
  • GSK3B-DT:GSK3B divergent transcript [Gene - HGNC]
  • IGSF11-AS1:IGSF11 antisense RNA 1 [Gene - HGNC]
  • LRRC58-DT:LRRC58 divergent transcript [Gene - HGNC]
  • LOC126806782:MED14-independent group 3 enhancer GRCh37_chr3:119419489-119420688 [Gene]
  • LOC129389114:MPRA-validated peak4778 silencer [Gene]
  • LOC129389115:MPRA-validated peak4780 silencer [Gene]
  • LOC129389116:MPRA-validated peak4781 silencer [Gene]
  • LOC129389117:MPRA-validated peak4782 silencer [Gene]
  • NDUFB4:NADH:ubiquinone oxidoreductase subunit B4 [Gene - OMIM - HGNC]
  • LOC126806783:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:119863928-119865127 [Gene]
  • RABL3:RAB, member of RAS oncogene family like 3 [Gene - OMIM - HGNC]
  • ARHGAP31:Rho GTPase activating protein 31 [Gene - OMIM - HGNC]
  • LOC112848344:Sharpr-MPRA regulatory region 12076 [Gene]
  • LOC112872290:Sharpr-MPRA regulatory region 13833 [Gene]
  • LOC121725153:Sharpr-MPRA regulatory region 15271 [Gene]
  • LOC123038158:Sharpr-MPRA regulatory region 3599 [Gene]
  • LOC112872291:Sharpr-MPRA regulatory region 5916 [Gene]
  • LOC123038159:Sharpr-MPRA regulatory region 6621 [Gene]
  • LOC123038160:Sharpr-MPRA regulatory region 6912 [Gene]
  • B4GALT4:beta-1,4-galactosyltransferase 4 [Gene - OMIM - HGNC]
  • CFAP91:cilia and flagella associated protein 91 [Gene - OMIM - HGNC]
  • COX17:cytochrome c oxidase copper chaperone COX17 [Gene - OMIM - HGNC]
  • FSTL1:follistatin like 1 [Gene - OMIM - HGNC]
  • GTF2E1:general transcription factor IIE subunit 1 [Gene - OMIM - HGNC]
  • GSK3B:glycogen synthase kinase 3 beta [Gene - OMIM - HGNC]
  • HGD:homogentisate 1,2-dioxygenase [Gene - OMIM - HGNC]
  • IGSF11:immunoglobulin superfamily member 11 [Gene - OMIM - HGNC]
  • LRRC58:leucine rich repeat containing 58 [Gene - HGNC]
  • LINC02049:long intergenic non-protein coding RNA 2049 [Gene - HGNC]
  • LINC03051:long intergenic non-protein coding RNA 3051 [Gene - HGNC]
  • MIR198:microRNA 198 [Gene - HGNC]
  • MIR6529:microRNA 6529 [Gene - HGNC]
  • NR1I2:nuclear receptor subfamily 1 group I member 2 [Gene - OMIM - HGNC]
  • PLA1A:phospholipase A1 member A [Gene - OMIM - HGNC]
  • POPDC2:popeye domain containing 2 [Gene - OMIM - HGNC]
  • POGLUT1:protein O-glucosyltransferase 1 [Gene - OMIM - HGNC]
  • TEX55:testis expressed 55 [Gene - HGNC]
  • TIMMDC1:translocase of inner mitochondrial membrane domain containing 1 [Gene - OMIM - HGNC]
  • TMEM39A:transmembrane protein 39A [Gene - HGNC]
  • LOC101926968:uncharacterized LOC101926968 [Gene]
  • LOC105374060:uncharacterized LOC105374060 [Gene]
  • UPK1B:uroplakin 1B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3q13.32-13.33
Genomic location:
Preferred name:
GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4
HGVS:
  • NC_000003.12:g.(?_117844958)_(120826621_?)dup
  • NC_000003.10:g.(?_119046495)_(122028158_?)dup
  • NC_000003.11:g.(?_117563805)_(120545468_?)dup
Links:
dbVar: nssv1601743; dbVar: nsv915928
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
SCV000179042ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 27, 2013) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humanmaternalyes1not 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, SCV000179042.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Sep 1, 2024