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GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3 AND See cases

Germline classification:
Benign (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:
RCV000053597.5

Allele description [Variation Report for GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3]

GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3

Genes:
  • LOC130061589:ATAC-STARR-seq lymphoblastoid active region 12700 [Gene]
  • LOC130061591:ATAC-STARR-seq lymphoblastoid active region 12701 [Gene]
  • LOC130061593:ATAC-STARR-seq lymphoblastoid active region 12702 [Gene]
  • LOC130061594:ATAC-STARR-seq lymphoblastoid active region 12703 [Gene]
  • LOC130061596:ATAC-STARR-seq lymphoblastoid active region 12704 [Gene]
  • LOC130061601:ATAC-STARR-seq lymphoblastoid active region 12705 [Gene]
  • LOC130061602:ATAC-STARR-seq lymphoblastoid active region 12706 [Gene]
  • LOC130061605:ATAC-STARR-seq lymphoblastoid active region 12707 [Gene]
  • LOC130061606:ATAC-STARR-seq lymphoblastoid active region 12708 [Gene]
  • LOC130061607:ATAC-STARR-seq lymphoblastoid active region 12709 [Gene]
  • LOC130061608:ATAC-STARR-seq lymphoblastoid active region 12710 [Gene]
  • LOC130061609:ATAC-STARR-seq lymphoblastoid active region 12711 [Gene]
  • LOC130061610:ATAC-STARR-seq lymphoblastoid active region 12712 [Gene]
  • LOC130061611:ATAC-STARR-seq lymphoblastoid active region 12713 [Gene]
  • LOC130061612:ATAC-STARR-seq lymphoblastoid active region 12714 [Gene]
  • LOC130061590:ATAC-STARR-seq lymphoblastoid silent region 8926 [Gene]
  • LOC130061592:ATAC-STARR-seq lymphoblastoid silent region 8927 [Gene]
  • LOC130061595:ATAC-STARR-seq lymphoblastoid silent region 8928 [Gene]
  • LOC130061597:ATAC-STARR-seq lymphoblastoid silent region 8929 [Gene]
  • LOC130061598:ATAC-STARR-seq lymphoblastoid silent region 8930 [Gene]
  • LOC130061599:ATAC-STARR-seq lymphoblastoid silent region 8931 [Gene]
  • LOC130061600:ATAC-STARR-seq lymphoblastoid silent region 8932 [Gene]
  • LOC130061603:ATAC-STARR-seq lymphoblastoid silent region 8934 [Gene]
  • LOC130061604:ATAC-STARR-seq lymphoblastoid silent region 8935 [Gene]
  • BTBD17:BTB domain containing 17 [Gene - HGNC]
  • CD300LB:CD300 molecule like family member b [Gene - OMIM - HGNC]
  • CD300LD:CD300 molecule like family member d [Gene - OMIM - HGNC]
  • CD300LF:CD300 molecule like family member f [Gene - OMIM - HGNC]
  • CD300H:CD300H molecule (gene/pseudogene) [Gene - OMIM - HGNC]
  • CD300LD-AS1:CD300LD antisense RNA 1 [Gene - HGNC]
  • CD300A:CD300a molecule [Gene - OMIM - HGNC]
  • CD300C:CD300c molecule [Gene - OMIM - HGNC]
  • CD300E:CD300e molecule [Gene - OMIM - HGNC]
  • GPR142:G protein-coupled receptor 142 [Gene - OMIM - HGNC]
  • GPRC5C:G protein-coupled receptor class C group 5 member C [Gene - OMIM - HGNC]
  • LOC129390932:MPRA-validated peak2991 silencer [Gene]
  • RAB37:RAB37, member RAS oncogene family [Gene - OMIM - HGNC]
  • LOC121852950:Sharpr-MPRA regulatory region 11842 [Gene]
  • LOC121627807:Sharpr-MPRA regulatory region 691 [Gene]
  • DNAI2:dynein axonemal intermediate chain 2 [Gene - OMIM - HGNC]
  • KIF19:kinesin family member 19 [Gene - OMIM - HGNC]
  • LINC02074:long intergenic non-protein coding RNA 2074 [Gene - HGNC]
  • RPL38:ribosomal protein L38 [Gene - OMIM - HGNC]
  • TTYH2:tweety family member 2 [Gene - OMIM - HGNC]
  • LOC101928343:uncharacterized LOC101928343 [Gene]
  • MGC16275:uncharacterized protein MGC16275 [Gene]
Variant type:
copy number gain
Cytogenetic location:
17q25.1
Genomic location:
Preferred name:
GRCh38/hg38 17q25.1(chr17:73851698-74732123)x3
HGVS:
  • NC_000017.11:g.(?_73851698)_(74732123_?)dup
  • NC_000017.10:g.(?_71847837)_(72728262_?)dup
  • NC_000017.9:g.(?_69359432)_(70239857_?)dup
Links:
dbVar: nssv579451; dbVar: nsv532262
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
SCV000080960ISCA site 4

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Benign
(Aug 12, 2011) 		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

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 ISCA site 4, SCV000080960.4

#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