GRCh38/hg38 17p13.3(chr17:1174818-1634495)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:: RCV000052447.5

Allele description [Variation Report for GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3]

GRCh38/hg38 17p13.3(chr17:1174818-1634495)x3

Genes:

ABR:ABR activator of RhoGEF and GTPase [Gene - OMIM - HGNC]
ABR-AS1:ABR antisense RNA 1 [Gene - HGNC]
LOC130059870:ATAC-STARR-seq lymphoblastoid active region 11443 [Gene]
LOC130059871:ATAC-STARR-seq lymphoblastoid active region 11444 [Gene]
LOC130059872:ATAC-STARR-seq lymphoblastoid active region 11446 [Gene]
LOC130059873:ATAC-STARR-seq lymphoblastoid active region 11447 [Gene]
LOC130059876:ATAC-STARR-seq lymphoblastoid active region 11448 [Gene]
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]
LOC130059874:ATAC-STARR-seq lymphoblastoid silent region 7948 [Gene]
LOC130059875:ATAC-STARR-seq lymphoblastoid silent region 7949 [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]
LOC129390818:MPRA-validated peak2673 silencer [Gene]
LOC129390819:MPRA-validated peak2674 silencer [Gene]
PITPNA-AS1:PITPNA antisense RNA 1 [Gene - HGNC]
LOC121848004:Sharpr-MPRA regulatory region 14526 [Gene]
LOC112529892:Sharpr-MPRA regulatory region 4720 [Gene]
BHLHA9:basic helix-loop-helix family member a9 [Gene - OMIM - HGNC]
INPP5K:inositol polyphosphate-5-phosphatase K [Gene - OMIM - HGNC]
MYO1C:myosin IC [Gene - OMIM - HGNC]
PITPNA:phosphatidylinositol transfer protein alpha [Gene - OMIM - HGNC]
SCARF1:scavenger receptor class F member 1 [Gene - OMIM - HGNC]
SLC43A2:solute carrier family 43 member 2 [Gene - OMIM - HGNC]
TRARG1:trafficking regulator of GLUT4 (SLC2A4) 1 [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(chr17:1174818-1634495)x3

HGVS:

NC_000017.11:g.(?_1174818)_(1634495_?)dup
NC_000017.10:g.(?_1078112)_(1537789_?)dup
NC_000017.9:g.(?_1024862)_(1484539_?)dup

Links:

dbVar: nssv578729; dbVar: nsv531157

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
SCV000079799	ISCA site 15 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	criteria provided, single submitter (Kaminsky et al. (Genet Med. 2011))	Pathogenic (Aug 12, 2011)	de novo	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

SCV000079799

ISCA site 15

See additional submitters

criteria provided, single submitter

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

Pathogenic
(Aug 12, 2011)

de novo

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	de novo	yes	1	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Nothing to display

Details of each submission

From ISCA site 15, SCV000079799.4

#	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	de novo	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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