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GRCh38/hg38 17p12(chr17:14208455-15579558)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
May 27, 2011
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:
RCV000138441.6

Allele description [Variation Report for GRCh38/hg38 17p12(chr17:14208455-15579558)x1]

GRCh38/hg38 17p12(chr17:14208455-15579558)x1

Genes:
  • LOC130060304:ATAC-STARR-seq lymphoblastoid silent region 8208 [Gene]
  • LOC130060305:ATAC-STARR-seq lymphoblastoid silent region 8209 [Gene]
  • LOC130060306:ATAC-STARR-seq lymphoblastoid silent region 8210 [Gene]
  • LOC130060307:ATAC-STARR-seq lymphoblastoid silent region 8211 [Gene]
  • LOC126862513:CDK7 strongly-dependent group 2 enhancer GRCh37_chr17:15181646-15182845 [Gene]
  • CDRT15:CMT1A duplicated region transcript 15 [Gene - HGNC]
  • CDRT3:CMT1A duplicated region transcript 3 [Gene - HGNC]
  • CDRT4:CMT1A duplicated region transcript 4 [Gene - HGNC]
  • CDRT7:CMT1A duplicated region transcript 7 [Gene - HGNC]
  • CDRT8:CMT1A duplicated region transcript 8 [Gene - HGNC]
  • FBXW10B:F-box and WD repeat domain containing 10B [Gene - OMIM - HGNC]
  • LOC126862512:MED14-independent group 3 enhancer GRCh37_chr17:15009287-15010486 [Gene]
  • LOC112529896:MED14-independent group 3 enhancer GRCh37_chr17:15393660-15394859 [Gene]
  • LOC126862511:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr17:14276639-14277838 [Gene]
  • LOC125177427:Sharpr-MPRA regulatory region 6604 [Gene]
  • TVP23C-CDRT4:TVP23C-CDRT4 readthrough [Gene - HGNC]
  • COX10:cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 [Gene - OMIM - HGNC]
  • HS3ST3B1:heparan sulfate-glucosamine 3-sulfotransferase 3B1 [Gene - OMIM - HGNC]
  • MIR4731:microRNA 4731 [Gene - HGNC]
  • PMP22:peripheral myelin protein 22 [Gene - OMIM - HGNC]
  • LOC105943587:proximal CMT1A-REP [Gene]
  • TEKT3:tektin 3 [Gene - OMIM - HGNC]
  • TVP23C:trans-golgi network vesicle protein 23 homolog C [Gene - HGNC]
  • LOC101928475:uncharacterized LOC101928475 [Gene]
  • MGC12916:uncharacterized protein MGC12916 [Gene]
Variant type:
copy number loss
Cytogenetic location:
17p12
Genomic location:
Preferred name:
GRCh38/hg38 17p12(chr17:14208455-15579558)x1
HGVS:
  • NC_000017.11:g.(?_14208455)_(15579558_?)del
  • NC_000017.10:g.(?_14111772)_(15482872_?)del
  • NC_000017.9:g.(?_14052497)_(15423597_?)del
Links:
dbVar: nssv1415427; dbVar: nsv915681
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
SCV000178768ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(May 27, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000178768.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024