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GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Feb 18, 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:
RCV000135641.7

Allele description [Variation Report for GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4]

GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4

Genes:
  • LOC107303339:3p25 BRK1 Alu-mediated recombination region [Gene]
  • LOC107303338:3p25 FANCD2 Alu-mediated recombination region [Gene]
  • LOC107303341:3p25 IRAK2 Alu-mediated recombination region [Gene]
  • LOC107303337:3p25 PRRT3 Alu-mediated recombination region [Gene]
  • LOC107303342:3p25 TatD DNase domain containing 2 Alu-mediated recombination region [Gene]
  • LOC107303340:3p25 von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase Alu-mediated recombination region [Gene]
  • OGG1:8-oxoguanine DNA glycosylase [Gene - OMIM - HGNC]
  • ARPC4-TTLL3:ARPC4-TTLL3 readthrough [Gene - HGNC]
  • LOC129936107:ATAC-STARR-seq lymphoblastoid active region 19390 [Gene]
  • LOC129936108:ATAC-STARR-seq lymphoblastoid active region 19391 [Gene]
  • LOC129936109:ATAC-STARR-seq lymphoblastoid active region 19392 [Gene]
  • LOC129936110:ATAC-STARR-seq lymphoblastoid active region 19393 [Gene]
  • LOC129936113:ATAC-STARR-seq lymphoblastoid active region 19394 [Gene]
  • LOC129936114:ATAC-STARR-seq lymphoblastoid active region 19395 [Gene]
  • LOC129936115:ATAC-STARR-seq lymphoblastoid active region 19396 [Gene]
  • LOC129936118:ATAC-STARR-seq lymphoblastoid active region 19397 [Gene]
  • LOC129936119:ATAC-STARR-seq lymphoblastoid active region 19398 [Gene]
  • LOC129936121:ATAC-STARR-seq lymphoblastoid active region 19399 [Gene]
  • LOC129936122:ATAC-STARR-seq lymphoblastoid active region 19400 [Gene]
  • LOC129936123:ATAC-STARR-seq lymphoblastoid active region 19401 [Gene]
  • LOC129936124:ATAC-STARR-seq lymphoblastoid active region 19402 [Gene]
  • LOC129936126:ATAC-STARR-seq lymphoblastoid active region 19403 [Gene]
  • LOC129936128:ATAC-STARR-seq lymphoblastoid active region 19405 [Gene]
  • LOC129936131:ATAC-STARR-seq lymphoblastoid active region 19406 [Gene]
  • LOC129936132:ATAC-STARR-seq lymphoblastoid active region 19407 [Gene]
  • LOC129936136:ATAC-STARR-seq lymphoblastoid active region 19409 [Gene]
  • LOC129936137:ATAC-STARR-seq lymphoblastoid active region 19410 [Gene]
  • LOC129936139:ATAC-STARR-seq lymphoblastoid active region 19411 [Gene]
  • LOC129936145:ATAC-STARR-seq lymphoblastoid active region 19413 [Gene]
  • LOC129936148:ATAC-STARR-seq lymphoblastoid active region 19416 [Gene]
  • LOC129936149:ATAC-STARR-seq lymphoblastoid active region 19417 [Gene]
  • LOC129929023:ATAC-STARR-seq lymphoblastoid active region 19418 [Gene]
  • LOC129929024:ATAC-STARR-seq lymphoblastoid active region 19419 [Gene]
  • LOC129929025:ATAC-STARR-seq lymphoblastoid active region 19420 [Gene]
  • LOC129936150:ATAC-STARR-seq lymphoblastoid active region 19421 [Gene]
  • LOC129936153:ATAC-STARR-seq lymphoblastoid active region 19422 [Gene]
  • LOC129936154:ATAC-STARR-seq lymphoblastoid active region 19425 [Gene]
  • LOC129936155:ATAC-STARR-seq lymphoblastoid active region 19426 [Gene]
  • LOC129936111:ATAC-STARR-seq lymphoblastoid silent region 14028 [Gene]
  • LOC129936112:ATAC-STARR-seq lymphoblastoid silent region 14029 [Gene]
  • LOC129936116:ATAC-STARR-seq lymphoblastoid silent region 14030 [Gene]
  • LOC129936117:ATAC-STARR-seq lymphoblastoid silent region 14031 [Gene]
  • LOC129936120:ATAC-STARR-seq lymphoblastoid silent region 14032 [Gene]
  • LOC129936125:ATAC-STARR-seq lymphoblastoid silent region 14033 [Gene]
  • LOC129936127:ATAC-STARR-seq lymphoblastoid silent region 14034 [Gene]
  • LOC129936129:ATAC-STARR-seq lymphoblastoid silent region 14038 [Gene]
  • LOC129936130:ATAC-STARR-seq lymphoblastoid silent region 14039 [Gene]
  • LOC129936133:ATAC-STARR-seq lymphoblastoid silent region 14040 [Gene]
  • LOC129936134:ATAC-STARR-seq lymphoblastoid silent region 14041 [Gene]
  • LOC129936135:ATAC-STARR-seq lymphoblastoid silent region 14042 [Gene]
  • LOC129936138:ATAC-STARR-seq lymphoblastoid silent region 14044 [Gene]
  • LOC129936140:ATAC-STARR-seq lymphoblastoid silent region 14047 [Gene]
  • LOC129936141:ATAC-STARR-seq lymphoblastoid silent region 14048 [Gene]
  • LOC129936142:ATAC-STARR-seq lymphoblastoid silent region 14049 [Gene]
  • LOC129936143:ATAC-STARR-seq lymphoblastoid silent region 14050 [Gene]
  • LOC129936144:ATAC-STARR-seq lymphoblastoid silent region 14051 [Gene]
  • LOC129936146:ATAC-STARR-seq lymphoblastoid silent region 14052 [Gene]
  • LOC129936147:ATAC-STARR-seq lymphoblastoid silent region 14053 [Gene]
  • LOC129929021:ATAC-STARR-seq lymphoblastoid silent region 14055 [Gene]
  • LOC129929022:ATAC-STARR-seq lymphoblastoid silent region 14056 [Gene]
  • LOC129936151:ATAC-STARR-seq lymphoblastoid silent region 14057 [Gene]
  • LOC129936152:ATAC-STARR-seq lymphoblastoid silent region 14058 [Gene]
  • LOC129929026:ATAC-STARR-seq lymphoblastoid silent region 14059 [Gene]
  • ATP2B2-IT1:ATP2B2 intronic transcript 1 [Gene - HGNC]
  • ATP2B2-IT2:ATP2B2 intronic transcript 2 [Gene - HGNC]
  • ATP2B2:ATPase plasma membrane Ca2+ transporting 2 [Gene - OMIM - HGNC]
  • BRK1:BRICK1 subunit of SCAR/WAVE actin nucleating complex [Gene - OMIM - HGNC]
  • LOC126806598:CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:8361398-8362597 [Gene]
  • EMC3-AS1:EMC3 antisense RNA 1 [Gene - HGNC]
  • EMC3:ER membrane protein complex subunit 3 [Gene - OMIM - HGNC]
  • FANCD2:FA complementation group D2 [Gene - OMIM - HGNC]
  • FANCD2OS:FANCD2 opposite strand [Gene - HGNC]
  • LHFPL4:LHFPL tetraspan subfamily member 4 [Gene - OMIM - HGNC]
  • LMCD1:LIM and cysteine rich domains 1 [Gene - OMIM - HGNC]
  • LMCD1-AS1:LMCD1 antisense RNA 1 [Gene - HGNC]
  • LOC126806600:MED14-independent group 3 enhancer GRCh37_chr3:10018113-10019312 [Gene]
  • LOC126806597:MED14-independent group 3 enhancer GRCh37_chr3:8082288-8083487 [Gene]
  • LOC129389019:MPRA-validated peak4531 silencer [Gene]
  • LOC129389020:MPRA-validated peak4533 silencer [Gene]
  • LOC129389021:MPRA-validated peak4536 silencer [Gene]
  • LOC129389022:MPRA-validated peak4540 silencer [Gene]
  • LOC129389023:MPRA-validated peak4541 silencer [Gene]
  • LOC132088859:Neanderthal introgressed variant-containing enhancer experimental_64297 [Gene]
  • LOC126806601:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:11178289-11179488 [Gene]
  • LOC126806599:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr3:8911034-8912233 [Gene]
  • PRRT3-AS1:PRRT3 antisense RNA 1 [Gene - OMIM - HGNC]
  • RAD18:RAD18 E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • RPUSD3:RNA pseudouridine synthase D3 [Gene - OMIM - HGNC]
  • SEC13:SEC13 homolog, nuclear pore and COPII coat complex component [Gene - OMIM - HGNC]
  • SETD5:SET domain containing 5 [Gene - OMIM - HGNC]
  • SLC6A1-AS1:SLC6A1 antisense RNA 1 [Gene - HGNC]
  • SRGAP3:SLIT-ROBO Rho GTPase activating protein 3 [Gene - OMIM - HGNC]
  • SRGAP3-AS2:SRGAP3 antisense RNA 2 [Gene - HGNC]
  • SRGAP3-AS3:SRGAP3 antisense RNA 3 [Gene - HGNC]
  • SRGAP3-AS4:SRGAP3 antisense RNA 4 [Gene - HGNC]
  • LOC122889024:Sharpr-MPRA regulatory region 1018 [Gene]
  • LOC122889027:Sharpr-MPRA regulatory region 11896 [Gene]
  • LOC121725128:Sharpr-MPRA regulatory region 12699 [Gene]
  • LOC112848342:Sharpr-MPRA regulatory region 13806 [Gene]
  • LOC122889029:Sharpr-MPRA regulatory region 13942 [Gene]
  • LOC112935963:Sharpr-MPRA regulatory region 14744 [Gene]
  • LOC114004374:Sharpr-MPRA regulatory region 15222 [Gene]
  • LOC122889028:Sharpr-MPRA regulatory region 15302 [Gene]
  • LOC112841609:Sharpr-MPRA regulatory region 1605 [Gene]
  • LOC122889033:Sharpr-MPRA regulatory region 1670 [Gene]
  • LOC121009637:Sharpr-MPRA regulatory region 2381 [Gene]
  • LOC122889026:Sharpr-MPRA regulatory region 3594 [Gene]
  • LOC121009639:Sharpr-MPRA regulatory region 4342 [Gene]
  • LOC122889025:Sharpr-MPRA regulatory region 4351 [Gene]
  • LOC121009638:Sharpr-MPRA regulatory region 4794 [Gene]
  • LOC121725129:Sharpr-MPRA regulatory region 7129 [Gene]
  • LOC122889032:Sharpr-MPRA regulatory region 781 [Gene]
  • LOC122889031:Sharpr-MPRA regulatory region 8698 [Gene]
  • LOC122889030:Sharpr-MPRA regulatory region 9891 [Gene]
  • THUMPD3:THUMP domain containing 3 [Gene - HGNC]
  • THUMPD3-AS1:THUMPD3 antisense RNA 1 [Gene - HGNC]
  • TATDN2:TatD DNase domain containing 2 [Gene - OMIM - HGNC]
  • ARPC4:actin related protein 2/3 complex subunit 4 [Gene - OMIM - HGNC]
  • BRPF1:bromodomain and PHD finger containing 1 [Gene - OMIM - HGNC]
  • CAMK1:calcium/calmodulin dependent protein kinase I [Gene - OMIM - HGNC]
  • CAV3:caveolin 3 [Gene - OMIM - HGNC]
  • CIDEC:cell death inducing DFFA like effector c [Gene - OMIM - HGNC]
  • CPNE9:copine family member 9 [Gene - HGNC]
  • CRELD1:cysteine rich with EGF like domains 1 [Gene - OMIM - HGNC]
  • GHRL:ghrelin and obestatin prepropeptide [Gene - OMIM - HGNC]
  • GHRLOS:ghrelin opposite strand/antisense RNA [Gene - OMIM - HGNC]
  • HRH1:histamine receptor H1 [Gene - OMIM - HGNC]
  • IRAK2:interleukin 1 receptor associated kinase 2 [Gene - OMIM - HGNC]
  • IL17RC:interleukin 17 receptor C [Gene - OMIM - HGNC]
  • IL17RE:interleukin 17 receptor E [Gene - OMIM - HGNC]
  • JAGN1:jagunal homolog 1 [Gene - OMIM - HGNC]
  • LINC00312:long intergenic non-protein coding RNA 312 [Gene - OMIM - HGNC]
  • LINC00606:long intergenic non-protein coding RNA 606 [Gene - HGNC]
  • LINC00852:long intergenic non-protein coding RNA 852 [Gene - HGNC]
  • MIR12127:microRNA 12127 [Gene - HGNC]
  • MIR378B:microRNA 378b [Gene - HGNC]
  • MIR885:microRNA 885 [Gene - HGNC]
  • MTMR14:myotubularin related protein 14 [Gene - OMIM - HGNC]
  • OXTR:oxytocin receptor [Gene - OMIM - HGNC]
  • PRRT3:proline rich transmembrane protein 3 [Gene - OMIM - HGNC]
  • SLC6A11:solute carrier family 6 member 11 [Gene - OMIM - HGNC]
  • SLC6A1:solute carrier family 6 member 1 [Gene - OMIM - HGNC]
  • SSUH2:ssu-2 homolog [Gene - OMIM - HGNC]
  • TADA3:transcriptional adaptor 3 [Gene - OMIM - HGNC]
  • TTLL3:tubulin tyrosine ligase like 3 [Gene - OMIM - HGNC]
  • LOC101927467:uncharacterized LOC101927467 [Gene]
  • LOC401052:uncharacterized LOC401052 [Gene]
  • VHL:von Hippel-Lindau tumor suppressor [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3p26.1-25.3
Genomic location:
Preferred name:
GRCh38/hg38 3p26.1-25.3(chr3:8038727-11240931)x4
HGVS:
  • NC_000003.12:g.(?_8038727)_(11240931_?)dup
  • NC_000003.10:g.(?_8055414)_(11257617_?)dup
  • NC_000003.11:g.(?_8080414)_(11282617_?)dup
Links:
dbVar: nssv706381; dbVar: nsv530482
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
SCV000175523ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Feb 18, 2011) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not 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, SCV000175523.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023