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GRCh38/hg38 17p11.2(chr17:20879426-22533437)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
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:
RCV000053124.6

Allele description [Variation Report for GRCh38/hg38 17p11.2(chr17:20879426-22533437)x3]

GRCh38/hg38 17p11.2(chr17:20879426-22533437)x3

Genes:
  • LOC130060485:ATAC-STARR-seq lymphoblastoid active region 11874 [Gene]
  • LOC130060486:ATAC-STARR-seq lymphoblastoid active region 11875 [Gene]
  • LOC130060487:ATAC-STARR-seq lymphoblastoid active region 11876 [Gene]
  • LOC130060489:ATAC-STARR-seq lymphoblastoid active region 11877 [Gene]
  • LOC130060490:ATAC-STARR-seq lymphoblastoid active region 11879 [Gene]
  • LOC130060491:ATAC-STARR-seq lymphoblastoid active region 11880 [Gene]
  • LOC130060494:ATAC-STARR-seq lymphoblastoid active region 11881 [Gene]
  • LOC130060497:ATAC-STARR-seq lymphoblastoid active region 11882 [Gene]
  • LOC130060500:ATAC-STARR-seq lymphoblastoid active region 11883 [Gene]
  • LOC130060501:ATAC-STARR-seq lymphoblastoid active region 11884 [Gene]
  • LOC130060484:ATAC-STARR-seq lymphoblastoid silent region 8310 [Gene]
  • LOC130060488:ATAC-STARR-seq lymphoblastoid silent region 8311 [Gene]
  • LOC130060492:ATAC-STARR-seq lymphoblastoid silent region 8313 [Gene]
  • LOC130060493:ATAC-STARR-seq lymphoblastoid silent region 8314 [Gene]
  • LOC130060495:ATAC-STARR-seq lymphoblastoid silent region 8315 [Gene]
  • LOC130060496:ATAC-STARR-seq lymphoblastoid silent region 8316 [Gene]
  • LOC130060498:ATAC-STARR-seq lymphoblastoid silent region 8317 [Gene]
  • LOC130060499:ATAC-STARR-seq lymphoblastoid silent region 8318 [Gene]
  • LOC130060502:ATAC-STARR-seq lymphoblastoid silent region 8320 [Gene]
  • LOC130060503:ATAC-STARR-seq lymphoblastoid silent region 8321 [Gene]
  • LOC126862518:BRD4-independent group 4 enhancer GRCh37_chr17:20987896-20989095 [Gene]
  • CCDC144NL-AS1:CCDC144NL antisense RNA 1 [Gene - HGNC]
  • LOC129390844:MPRA-validated peak2767 silencer [Gene]
  • MTRNR2L1:MT-RNR2 like 1 [Gene - OMIM - HGNC]
  • NATD1:N-acetyltransferase domain containing 1 [Gene - HGNC]
  • LOC126862519:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:21190872-21192071 [Gene]
  • LOC125177440:Sharpr-MPRA regulatory region 15661 [Gene]
  • LOC125177441:Sharpr-MPRA regulatory region 3895 [Gene]
  • LOC121587581:Sharpr-MPRA regulatory region 5958 [Gene]
  • TMEM11-DT:TMEM11 divergent transcript [Gene - HGNC]
  • DHRS7B:dehydrogenase/reductase 7B [Gene - OMIM - HGNC]
  • FAM27E5:family with sequence similarity E5 [Gene - HGNC]
  • LINC01563:long intergenic non-protein coding RNA 1563 [Gene - HGNC]
  • LINC02002:long intergenic non-protein coding RNA 2002 [Gene - HGNC]
  • LINC02693:long intergenic non-protein coding RNA 2693 [Gene - HGNC]
  • MAP2K3:mitogen-activated protein kinase kinase 3 [Gene - OMIM - HGNC]
  • KCNJ12:potassium inwardly rectifying channel subfamily J member 12 [Gene - OMIM - HGNC]
  • KCNJ18:potassium inwardly rectifying channel subfamily J member 18 [Gene - OMIM - HGNC]
  • TMEM11:transmembrane protein 11 [Gene - OMIM - HGNC]
  • USP22:ubiquitin specific peptidase 22 [Gene - OMIM - HGNC]
  • FLJ36000:uncharacterized FLJ36000 [Gene - OMIM]
  • LOC105371597:uncharacterized LOC105371597 [Gene]
  • LOC339260:uncharacterized LOC339260 [Gene]
Variant type:
copy number gain
Cytogenetic location:
17p11.2
Genomic location:
Preferred name:
GRCh38/hg38 17p11.2(chr17:20879426-22533437)x3
HGVS:
  • NC_000017.11:g.(?_20879426)_(22533437_?)dup
  • NC_000017.10:g.(?_20782739)_(22032763_?)dup
  • NC_000017.9:g.(?_20723331)_(21956890_?)dup
Links:
dbVar: nssv580262; dbVar: nsv531813
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

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  • ATP synthase F0 subunit 6 (mitochondrion) [Celyphus obtectus]
    ATP synthase F0 subunit 6 (mitochondrion) [Celyphus obtectus]
    gi|1179695918|gb|ARI44177.1|
    Protein
  • cytochrome c oxidase subunit III (mitochondrion) [Celyphus obtectus]
    cytochrome c oxidase subunit III (mitochondrion) [Celyphus obtectus]
    gi|1179695919|gb|ARI44178.1|
    Protein
  • Culicoides sonorensis elongation factor 1 alpha (EF1alpha) gene, partial cds.
    Culicoides sonorensis elongation factor 1 alpha (EF1alpha) gene, partial cds.
    PopSet: 2812479199
    PopSet
  • Cheilosia tRNA-Ile, tRNA-Gln, and tRNA-Met genes, complete sequence; NADH dehydr...
    Cheilosia tRNA-Ile, tRNA-Gln, and tRNA-Met genes, complete sequence; NADH dehydrogenase subunit 2 (ND2) gene, complete cds; tRNA-Trp, tRNA-Cys, and tRNA-Tyr genes, complete sequence; cytochrome c oxidase subunit I (COX1) gene, partial cds; tRNA-Leu gene, complete sequence; cytochrome c oxidase subunit II (COX2) gene, complete cds; tRNA-Lys and tRNA-Asp genes, complete sequence; ATP synthase F0 subunit 8 (ATP8), ATP synthase F0 subunit 6 (ATP6), and cytochrome c oxidase subunit III (COX3) genes, complete cds; tRNA-Gly gene, complete sequence; NADH dehydrogenase subunit 3 (ND3) gene, complete cds; tRNA-Ala, tRNA-Arg, tRNA-Asn, tRNA-Ser, tRNA-Glu, and tRNA-Phe genes, complete sequence; NADH dehydrogenase subunit 5 (ND5) gene, complete cds; tRNA-His gene, complete sequence; NADH dehydrogenase subunit 4 (ND4) and NADH dehydrogenase subunit 4L (ND4L) genes, complete cds; tRNA-Thr and tRNA-Pro genes, complete sequence; NADH dehydrogenase subunit 6 (ND6) and cytochrome b (CYTB) genes, complete cds; tRNA-Ser gene, complete sequence; NADH dehydrogenase subunit 1 (ND1) gene, complete cds; and tRNA-Leu, 16S ribosomal RNA, tRNA-Val, and 12S ribosomal RNA genes and D-loop, complete sequence; mitochondrial.
    PopSet: 2813515661
    PopSet

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000080480GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000080480.5

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

Last Updated: Oct 14, 2023