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GRCh37/hg19 17q12(chr17:34822466-36393628)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 19, 2013
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:
RCV000142004.5

Allele description [Variation Report for GRCh37/hg19 17q12(chr17:34822466-36393628)x1]

GRCh37/hg19 17q12(chr17:34822466-36393628)x1

Genes:
  • LOC126862545:BRD4-independent group 4 enhancer GRCh37_chr17:35453499-35454698 [Gene]
  • LOC126862549:BRD4-independent group 4 enhancer GRCh37_chr17:36093401-36094600 [Gene]
  • 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]
  • 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]
  • TBC1D3:TBC1 domain family member 3 [Gene - OMIM - HGNC]
  • TBC1D3E:TBC1 domain family member 3E [Gene - OMIM - 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]
  • 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]
Variant type:
copy number loss
Cytogenetic location:
17q12
Genomic location:
Preferred name:
GRCh37/hg19 17q12(chr17:34822466-36393628)x1
HGVS:
  • NT_187614.1:g.(?_801047)_(2272693_?)del
  • NC_000017.10:g.(?_34822466)_(36393628_?)del
  • NC_000017.9:g.(?_31896579)_(33647435_?)del
Links:
dbVar: nssv3397336; dbVar: nsv995711
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
SCV000183138ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Aug 19, 2013) 		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 1, SCV000183138.4

#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