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GRCh37/hg19 17q12(chr17:34310998-36297053)x3 AND See cases

Germline classification:
Pathogenic (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:
RCV000051912.5

Allele description

GRCh37/hg19 17q12(chr17:34310998-36297053)x3

Genes:
  • LOC126862545:BRD4-independent group 4 enhancer GRCh37_chr17:35453499-35454698 [Gene]
  • LOC126862549:BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600 [Gene]
  • CCL14:C-C motif chemokine ligand 14 [Gene - OMIM - HGNC]
  • CCL15:C-C motif chemokine ligand 15 [Gene - OMIM - HGNC]
  • CCL18:C-C motif chemokine ligand 18 [Gene - OMIM - HGNC]
  • CCL23:C-C motif chemokine ligand 23 [Gene - OMIM - HGNC]
  • CCL3L3:C-C motif chemokine ligand 3 like 3 [Gene - OMIM - HGNC]
  • CCL3:C-C motif chemokine ligand 3 [Gene - OMIM - HGNC]
  • CCL4L2:C-C motif chemokine ligand 4 like 2 [Gene - OMIM - HGNC]
  • CCL4:C-C motif chemokine ligand 4 [Gene - OMIM - HGNC]
  • CCL15-CCL14:CCL15-CCL14 readthrough (NMD candidate) [Gene - HGNC]
  • CCL3-AS1:CCL3 antisense RNA 1 [Gene - HGNC]
  • DDX52:DExD-box helicase 52 [Gene - OMIM - HGNC]
  • HNF1B:HNF1 homeobox B [Gene - OMIM - HGNC]
  • LHX1-DT:LHX1 divergent transcript [Gene - HGNC]
  • LHX1:LIM homeobox 1 [Gene - OMIM - HGNC]
  • LOC126862546:MED14-independent group 3 enhancer GRCh37_chr17:35901785-35902984 [Gene]
  • LOC129390864:MPRA-validated peak2824 silencer [Gene]
  • LOC129390865:MPRA-validated peak2825 silencer [Gene]
  • LOC129390866:MPRA-validated peak2828 silencer [Gene]
  • LOC129390867:MPRA-validated peak2830 silencer [Gene]
  • LOC126862543:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:35207061-35208260 [Gene]
  • LOC126862544:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:35278241-35279440 [Gene]
  • LOC126862547:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:36057789-36058988 [Gene]
  • LOC126862548:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:36062200-36063399 [Gene]
  • LOC125177462:Sharpr-MPRA regulatory region 13221 [Gene]
  • LOC112529910:Sharpr-MPRA regulatory region 14078 [Gene]
  • LOC125177463:Sharpr-MPRA regulatory region 9746 [Gene]
  • TBC1D3B:TBC1 domain family member 3B [Gene - OMIM - HGNC]
  • TBC1D3F:TBC1 domain family member 3F [Gene - OMIM - HGNC]
  • TBC1D3G:TBC1 domain family member 3G [Gene - OMIM - HGNC]
  • TBC1D3H:TBC1 domain family member 3H [Gene - OMIM - HGNC]
  • TBC1D3I:TBC1 domain family member 3I [Gene - HGNC]
  • LOC110120863:VISTA enhancer hs363 [Gene]
  • ACACA:acetyl-CoA carboxylase alpha [Gene - OMIM - HGNC]
  • AATF:apoptosis antagonizing transcription factor [Gene - OMIM - HGNC]
  • C17orf78:chromosome 17 open reading frame 78 [Gene - HGNC]
  • DHRS11:dehydrogenase/reductase 11 [Gene - OMIM - HGNC]
  • DUSP14:dual specificity phosphatase 14 [Gene - OMIM - HGNC]
  • GGNBP2:gametogenetin binding protein 2 [Gene - OMIM - HGNC]
  • MIR2909:microRNA 2909 [Gene - HGNC]
  • MIR378J:microRNA 378j [Gene - HGNC]
  • MRM1:mitochondrial rRNA methyltransferase 1 [Gene - OMIM - HGNC]
  • MYO19:myosin XIX [Gene - OMIM - HGNC]
  • PIGW:phosphatidylinositol glycan anchor biosynthesis class W [Gene - OMIM - HGNC]
  • SNORA90:small nucleolar RNA, H/ACA box 90 [Gene - HGNC]
  • SYNRG:synergin gamma [Gene - OMIM - HGNC]
  • TADA2A:transcriptional adaptor 2A [Gene - OMIM - HGNC]
  • LOC105371756:uncharacterized LOC105371756 [Gene]
  • ZNHIT3:zinc finger HIT-type containing 3 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
17q12
Genomic location:
Preferred name:
GRCh37/hg19 17q12(chr17:34310998-36297053)x3
HGVS:
  • NT_187614.1:g.(?_218526)_(2142084_?)dup
  • NC_000017.10:g.(?_34310998)_(36297053_?)dup
  • NC_000017.9:g.(?_31335111)_(33373530_?)dup
Links:
dbVar: nssv577029; dbVar: nssv577030; dbVar: nsv530625
Observations:
2

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
SCV000079261ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		not providedclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes2not 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 6, SCV000079261.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Oct 14, 2023