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GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Oct 19, 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:
RCV000136494.5

Allele description [Variation Report for GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3]

GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3

Genes:
  • LOC130060540:ATAC-STARR-seq lymphoblastoid active region 11920 [Gene]
  • LOC130060541:ATAC-STARR-seq lymphoblastoid active region 11921 [Gene]
  • LOC130060542:ATAC-STARR-seq lymphoblastoid active region 11922 [Gene]
  • LOC130060544:ATAC-STARR-seq lymphoblastoid active region 11924 [Gene]
  • LOC130060547:ATAC-STARR-seq lymphoblastoid active region 11925 [Gene]
  • LOC130060548:ATAC-STARR-seq lymphoblastoid active region 11926 [Gene]
  • LOC130060551:ATAC-STARR-seq lymphoblastoid active region 11927 [Gene]
  • LOC130060552:ATAC-STARR-seq lymphoblastoid active region 11928 [Gene]
  • LOC130060556:ATAC-STARR-seq lymphoblastoid active region 11932 [Gene]
  • LOC130060558:ATAC-STARR-seq lymphoblastoid active region 11933 [Gene]
  • LOC130060559:ATAC-STARR-seq lymphoblastoid active region 11934 [Gene]
  • LOC130060562:ATAC-STARR-seq lymphoblastoid active region 11936 [Gene]
  • LOC130060564:ATAC-STARR-seq lymphoblastoid active region 11938 [Gene]
  • LOC130060565:ATAC-STARR-seq lymphoblastoid active region 11939 [Gene]
  • LOC130060567:ATAC-STARR-seq lymphoblastoid active region 11943 [Gene]
  • LOC130060568:ATAC-STARR-seq lymphoblastoid active region 11944 [Gene]
  • LOC130060569:ATAC-STARR-seq lymphoblastoid active region 11946 [Gene]
  • LOC130060570:ATAC-STARR-seq lymphoblastoid active region 11947 [Gene]
  • LOC130060571:ATAC-STARR-seq lymphoblastoid active region 11948 [Gene]
  • LOC130060572:ATAC-STARR-seq lymphoblastoid active region 11949 [Gene]
  • LOC130060573:ATAC-STARR-seq lymphoblastoid active region 11950 [Gene]
  • LOC130060575:ATAC-STARR-seq lymphoblastoid active region 11951 [Gene]
  • LOC130060578:ATAC-STARR-seq lymphoblastoid active region 11954 [Gene]
  • LOC130060579:ATAC-STARR-seq lymphoblastoid active region 11955 [Gene]
  • LOC130060543:ATAC-STARR-seq lymphoblastoid silent region 8335 [Gene]
  • LOC130060545:ATAC-STARR-seq lymphoblastoid silent region 8337 [Gene]
  • LOC130060546:ATAC-STARR-seq lymphoblastoid silent region 8338 [Gene]
  • LOC130060549:ATAC-STARR-seq lymphoblastoid silent region 8339 [Gene]
  • LOC130060550:ATAC-STARR-seq lymphoblastoid silent region 8340 [Gene]
  • LOC130060553:ATAC-STARR-seq lymphoblastoid silent region 8341 [Gene]
  • LOC130060554:ATAC-STARR-seq lymphoblastoid silent region 8342 [Gene]
  • LOC130060555:ATAC-STARR-seq lymphoblastoid silent region 8343 [Gene]
  • LOC130060557:ATAC-STARR-seq lymphoblastoid silent region 8344 [Gene]
  • LOC130060560:ATAC-STARR-seq lymphoblastoid silent region 8346 [Gene]
  • LOC130060561:ATAC-STARR-seq lymphoblastoid silent region 8347 [Gene]
  • LOC130060563:ATAC-STARR-seq lymphoblastoid silent region 8349 [Gene]
  • LOC130060566:ATAC-STARR-seq lymphoblastoid silent region 8350 [Gene]
  • LOC130060574:ATAC-STARR-seq lymphoblastoid silent region 8352 [Gene]
  • LOC130060576:ATAC-STARR-seq lymphoblastoid silent region 8354 [Gene]
  • LOC130060577:ATAC-STARR-seq lymphoblastoid silent region 8357 [Gene]
  • LOC130060580:ATAC-STARR-seq lymphoblastoid silent region 8359 [Gene]
  • LOC130060581:ATAC-STARR-seq lymphoblastoid silent region 8360 [Gene]
  • LOC126862524:BRD4-independent group 4 enhancer GRCh37_chr17:26938368-26939567 [Gene]
  • LOC126862526:BRD4-independent group 4 enhancer GRCh37_chr17:27185111-27186310 [Gene]
  • LOC116276457:CRISPRi-validated cis-regulatory element chr17.1493 [Gene]
  • POLDIP2:DNA polymerase delta interacting protein 2 [Gene - OMIM - HGNC]
  • ERAL1:Era like 12S mitochondrial rRNA chaperone 1 [Gene - OMIM - HGNC]
  • LOC126862523:MED14-independent group 3 enhancer GRCh37_chr17:26609113-26610312 [Gene]
  • LOC126862525:MED14-independent group 3 enhancer GRCh37_chr17:26988611-26989810 [Gene]
  • LOC129390846:MPRA-validated peak2778 silencer [Gene]
  • NEK8:NIMA related kinase 8 [Gene - OMIM - HGNC]
  • RAB34:RAB34, member RAS oncogene family [Gene - OMIM - HGNC]
  • SEBOX:SEBOX homeobox [Gene - OMIM - HGNC]
  • SPAG5-AS1:SPAG5 antisense RNA 1 [Gene - HGNC]
  • SUPT6H:SPT6 homolog, histone chaperone and transcription elongation factor [Gene - OMIM - HGNC]
  • LOC112529902:Sharpr-MPRA regulatory region 10516 [Gene]
  • LOC112529903:Sharpr-MPRA regulatory region 11843 [Gene]
  • TLCD1:TLC domain containing 1 [Gene - HGNC]
  • TNFAIP1:TNF alpha induced protein 1 [Gene - OMIM - HGNC]
  • TRAF4:TNF receptor associated factor 4 [Gene - OMIM - HGNC]
  • ALDOC:aldolase, fructose-bisphosphate C [Gene - OMIM - HGNC]
  • BLTP2:bridge-like lipid transfer protein family member 2 [Gene - OMIM - HGNC]
  • DHRS13:dehydrogenase/reductase 13 [Gene - OMIM - HGNC]
  • FAM222B:family with sequence similarity 222 member B [Gene - HGNC]
  • FLOT2:flotillin 2 [Gene - OMIM - HGNC]
  • FOXN1:forkhead box N1 [Gene - OMIM - HGNC]
  • IFT20:intraflagellar transport 20 [Gene - OMIM - HGNC]
  • MIR144:microRNA 144 [Gene - OMIM - HGNC]
  • MIR451A:microRNA 451a [Gene - OMIM - HGNC]
  • MIR451B:microRNA 451b [Gene - HGNC]
  • MIR4723:microRNA 4723 [Gene - HGNC]
  • MIR4732:microRNA 4732 [Gene - HGNC]
  • NARR:nine-amino acid residue-repeats [Gene]
  • PIGS:phosphatidylinositol glycan anchor biosynthesis class S [Gene - OMIM - HGNC]
  • PROCA1:protein interacting with cyclin A1 [Gene - OMIM - HGNC]
  • RPL23A:ribosomal protein L23a [Gene - OMIM - HGNC]
  • RSKR:ribosomal protein S6 kinase related [Gene - HGNC]
  • SNORD42A:small nucleolar RNA, C/D box 42A [Gene - HGNC]
  • SNORD42B:small nucleolar RNA, C/D box 42B [Gene - HGNC]
  • SNORD4A:small nucleolar RNA, C/D box 4A [Gene - HGNC]
  • SNORD4B:small nucleolar RNA, C/D box 4B [Gene - HGNC]
  • SLC13A2:solute carrier family 13 member 2 [Gene - OMIM - HGNC]
  • SLC46A1:solute carrier family 46 member 1 [Gene - OMIM - HGNC]
  • SPAG5:sperm associated antigen 5 [Gene - OMIM - HGNC]
  • SARM1:sterile alpha and TIR motif containing 1 [Gene - OMIM - HGNC]
  • SDF2:stromal cell derived factor 2 [Gene - OMIM - HGNC]
  • TMEM199:transmembrane protein 199 [Gene - OMIM - HGNC]
  • TMEM97:transmembrane protein 97 [Gene - OMIM - HGNC]
  • UNC119:unc-119 lipid binding chaperone [Gene - OMIM - HGNC]
  • VTN:vitronectin [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q11.2
Genomic location:
Preferred name:
GRCh38/hg38 17q11.2(chr17:28283125-28904397)x3
HGVS:
  • NC_000017.11:g.(?_28283125)_(28904397_?)dup
  • NC_000017.10:g.(?_26610151)_(27231415_?)dup
  • NC_000017.9:g.(?_23634278)_(24255541_?)dup
Links:
dbVar: nssv581813; dbVar: nsv533787
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
SCV000176557ISCA site 8

See additional submitters

no assertion criteria provided
Benign
(Oct 19, 2010) 		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

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 8, SCV000176557.3

#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