GRCh38/hg38 17p13.3(chr17:1368601-1589181)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:: RCV000050827.5

Allele description [Variation Report for GRCh38/hg38 17p13.3(chr17:1368601-1589181)x3]

GRCh38/hg38 17p13.3(chr17:1368601-1589181)x3

Genes:

LOC130059877:ATAC-STARR-seq lymphoblastoid active region 11449 [Gene]
LOC130059879:ATAC-STARR-seq lymphoblastoid active region 11450 [Gene]
LOC130059880:ATAC-STARR-seq lymphoblastoid active region 11451 [Gene]
LOC130059881:ATAC-STARR-seq lymphoblastoid active region 11452 [Gene]
LOC130059886:ATAC-STARR-seq lymphoblastoid active region 11453 [Gene]
LOC130059887:ATAC-STARR-seq lymphoblastoid active region 11454 [Gene]
LOC130059890:ATAC-STARR-seq lymphoblastoid active region 11455 [Gene]
LOC130059878:ATAC-STARR-seq lymphoblastoid silent region 7954 [Gene]
LOC130059882:ATAC-STARR-seq lymphoblastoid silent region 7955 [Gene]
LOC130059883:ATAC-STARR-seq lymphoblastoid silent region 7956 [Gene]
LOC130059884:ATAC-STARR-seq lymphoblastoid silent region 7957 [Gene]
LOC130059885:ATAC-STARR-seq lymphoblastoid silent region 7960 [Gene]
LOC130059888:ATAC-STARR-seq lymphoblastoid silent region 7961 [Gene]
LOC130059889:ATAC-STARR-seq lymphoblastoid silent region 7962 [Gene]
CRK:CRK proto-oncogene, adaptor protein [Gene - OMIM - HGNC]
LOC129390819:MPRA-validated peak2674 silencer [Gene]
PITPNA-AS1:PITPNA antisense RNA 1 [Gene - HGNC]
LOC112529892:Sharpr-MPRA regulatory region 4720 [Gene]
INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
MYO1C:myosin IC [Gene - OMIM - HGNC]
PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
SLC43A2:solute carrier family 43 member 2 [Gene - OMIM - HGNC]
YWHAE:tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon [Gene - OMIM - HGNC]

Variant type:

copy number gain

Cytogenetic location:

17p13.3

Genomic location:

Preferred name:

GRCh38/hg38 17p13.3(chr17:1368601-1589181)x3

HGVS:

NC_000017.11:g.(?_1368601)_(1589181_?)dup
NC_000017.10:g.(?_1271895)_(1492475_?)dup
NC_000017.9:g.(?_1218645)_(1439225_?)dup

Links:

dbVar: nssv578734; dbVar: nsv529418

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
SCV000078160	ISCA site 4 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (Aug 12, 2011)	unknown	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

SCV000078160

ISCA site 4

See additional submitters

criteria provided, single submitter

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

Pathogenic
(Aug 12, 2011)

unknown

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	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 4, SCV000078160.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	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	unknown	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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