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Single allele AND 5q35 microduplication syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 25, 2021
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:
RCV002286375.1

Allele description [Variation Report for Single allele]

Genes:
  • 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]
  • 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]
  • 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]
  • 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]
  • MXD3:MAX dimerization protein 3 [Gene - OMIM - HGNC]
  • 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]
  • LOC126807617:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:176214607-176215806 [Gene]
  • PRELID1:PRELI domain containing 1 [Gene - OMIM - HGNC]
  • RAB24:RAB24, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC114004391:Sharpr-MPRA regulatory region 11151 [Gene]
  • LOC121099716:Sharpr-MPRA regulatory region 13731 [Gene]
  • LOC121099715:Sharpr-MPRA regulatory region 4950 [Gene]
  • LOC123575630:Sharpr-MPRA regulatory region 7457 [Gene]
  • LOC121740633:Sharpr-MPRA regulatory region 75 [Gene]
  • LOC110121241:VISTA enhancer hs2007 [Gene]
  • CDHR2:cadherin related family member 2 [Gene - OMIM - HGNC]
  • EIF4E1B:eukaryotic translation initiation factor 4E family member 1B [Gene - 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]
  • MIR4281:microRNA 4281 [Gene - HGNC]
  • NSD1:nuclear receptor binding SET domain protein 1 [Gene - OMIM - HGNC]
  • RGS14:regulator of G protein signaling 14 [Gene - OMIM - HGNC]
  • RNF44:ring finger protein 44 [Gene - OMIM - HGNC]
  • SNCB:synuclein beta [Gene - OMIM - HGNC]
  • TSPAN17:tetraspanin 17 [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:
Duplication
Cytogenetic location:
5q35.2-35.3
Genomic location:
Chr5: 176449583 - 177376826 (on Assembly GRCh38)

Condition(s)

Name:
5q35 microduplication syndrome
Identifiers:
MONDO: MONDO:0016461; MedGen: C4304526

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002576326Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine
criteria provided, single submitter

(ACMG/ClinGen CNV Guidelines, 2019)		Pathogenic
(May 25, 2021) 		de novoresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedresearch

Citations

PubMed

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).

Riggs ER, Andersen EF, Cherry AM, Kantarci S, Kearney H, Patel A, Raca G, Ritter DI, South ST, Thorland EC, Pineda-Alvarez D, Aradhya S, Martin CL.

Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6. Erratum in: Genet Med. 2021 Nov;23(11):2230. doi: 10.1038/s41436-021-01150-9.

PubMed [citation]
PMID:
31690835
PMCID:
PMC7313390

Details of each submission

From Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine, SCV002576326.1

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

Last Updated: Oct 14, 2023