GRCh38/hg38 17p12(chr17:14186983-15578926)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:: RCV000051845.6

Allele description [Variation Report for GRCh38/hg38 17p12(chr17:14186983-15578926)x3]

GRCh38/hg38 17p12(chr17:14186983-15578926)x3

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]
LOC132090456:Neanderthal introgressed variant-containing enhancer experimental_47071 [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]
LOC105943586:distal CMT1A-REP [Gene]
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 gain

Cytogenetic location:

17p12

Genomic location:

Preferred name:

GRCh38/hg38 17p12(chr17:14186983-15578926)x3

HGVS:

NC_000017.11:g.(?_14186983)_(15578926_?)dup
NC_000017.10:g.(?_14090300)_(15482240_?)dup
NC_000017.9:g.(?_14031025)_(15422965_?)dup

Links:

dbVar: nssv576998; dbVar: nssv577000; dbVar: nssv577001; dbVar: nsv530560

Observations:

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000079193	ISCA Site 6 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (Aug 12, 2011)	paternal, not provided	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000079193

ISCA Site 6

See additional submitters

criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))

Pathogenic
(Aug 12, 2011)

paternal, not provided

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	yes	2	not provided	not provided	not provided	not provided	clinical testing
not provided	paternal	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV000079193.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)
2	not provided	1	not provided	not provided	clinical testing	PubMed (1)
3	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
2	paternal	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided
3	not provided	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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