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GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 14, 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:
RCV000136987.6

Allele description [Variation Report for GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3]

GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3

Genes:
  • LOC130059943:ATAC-STARR-seq lymphoblastoid active region 11486 [Gene]
  • LOC130059944:ATAC-STARR-seq lymphoblastoid active region 11487 [Gene]
  • LOC130059945:ATAC-STARR-seq lymphoblastoid active region 11488 [Gene]
  • LOC130059946:ATAC-STARR-seq lymphoblastoid active region 11489 [Gene]
  • LOC130059947:ATAC-STARR-seq lymphoblastoid active region 11490 [Gene]
  • LOC130059953:ATAC-STARR-seq lymphoblastoid active region 11491 [Gene]
  • LOC130059954:ATAC-STARR-seq lymphoblastoid active region 11492 [Gene]
  • LOC130059959:ATAC-STARR-seq lymphoblastoid active region 11493 [Gene]
  • LOC130059961:ATAC-STARR-seq lymphoblastoid active region 11494 [Gene]
  • LOC130059962:ATAC-STARR-seq lymphoblastoid active region 11495 [Gene]
  • LOC130059963:ATAC-STARR-seq lymphoblastoid active region 11496 [Gene]
  • LOC130059948:ATAC-STARR-seq lymphoblastoid silent region 7990 [Gene]
  • LOC130059949:ATAC-STARR-seq lymphoblastoid silent region 7991 [Gene]
  • LOC130059950:ATAC-STARR-seq lymphoblastoid silent region 7992 [Gene]
  • LOC130059951:ATAC-STARR-seq lymphoblastoid silent region 7993 [Gene]
  • LOC130059952:ATAC-STARR-seq lymphoblastoid silent region 7994 [Gene]
  • LOC130059955:ATAC-STARR-seq lymphoblastoid silent region 7998 [Gene]
  • LOC130059956:ATAC-STARR-seq lymphoblastoid silent region 8000 [Gene]
  • LOC130059957:ATAC-STARR-seq lymphoblastoid silent region 8001 [Gene]
  • LOC130059958:ATAC-STARR-seq lymphoblastoid silent region 8002 [Gene]
  • LOC130059960:ATAC-STARR-seq lymphoblastoid silent region 8004 [Gene]
  • LOC130059964:ATAC-STARR-seq lymphoblastoid silent region 8006 [Gene]
  • LOC130059965:ATAC-STARR-seq lymphoblastoid silent region 8007 [Gene]
  • LOC130059966:ATAC-STARR-seq lymphoblastoid silent region 8008 [Gene]
  • MNT:MAX network transcriptional repressor [Gene - OMIM - HGNC]
  • LOC129390821:MPRA-validated peak2683 silencer [Gene]
  • SMG6:SMG6 nonsense mediated mRNA decay factor [Gene - OMIM - HGNC]
  • LOC125177406:Sharpr-MPRA regulatory region 7021 [Gene]
  • TSR1:TSR1 ribosome maturation factor [Gene - OMIM - HGNC]
  • LOC111413025:ZFP161 motif-containing MPRA enhancer 161/162 [Gene]
  • CLUH:clustered mitochondria homolog [Gene - OMIM - HGNC]
  • METTL16:methyltransferase 16, RNA N6-adenosine [Gene - HGNC]
  • MIR6776:microRNA 6776 [Gene - HGNC]
  • PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
  • SRR:serine racemase [Gene - OMIM - HGNC]
  • SGSM2:small G protein signaling modulator 2 [Gene - OMIM - HGNC]
  • SNORD91A:small nucleolar RNA, C/D box 91A [Gene - HGNC]
  • SNORD91B:small nucleolar RNA, C/D box 91B [Gene - HGNC]
  • LOC105371490:uncharacterized LOC105371490 [Gene]
  • LOC284009:uncharacterized LOC284009 [Gene]
Variant type:
copy number gain
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
GRCh38/hg38 17p13.3(chr17:2254635-2699329)x3
HGVS:
  • NC_000017.11:g.(?_2254635)_(2699329_?)dup
  • NC_000017.10:g.(?_2157929)_(2602623_?)dup
  • NC_000017.9:g.(?_2104679)_(2549373_?)dup
Links:
dbVar: nssv582375; dbVar: nsv534376
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
SCV000177153ISCA site 8

See additional submitters

no assertion criteria provided
Uncertain significance
(Oct 14, 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, SCV000177153.3

#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