GRCh38/hg38 5q11.2(chr5:53969356-54618645)x3 AND See cases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Sep 27, 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:: RCV000141769.6

Allele description [Variation Report for GRCh38/hg38 5q11.2(chr5:53969356-54618645)x3]

GRCh38/hg38 5q11.2(chr5:53969356-54618645)x3

Genes:

ARL15:ADP ribosylation factor like GTPase 15 [Gene - HGNC]
LOC129993887:ATAC-STARR-seq lymphoblastoid active region 22548 [Gene]
LOC129993888:ATAC-STARR-seq lymphoblastoid active region 22549 [Gene]
LOC129993889:ATAC-STARR-seq lymphoblastoid active region 22550 [Gene]
LOC116158517:CRISPRi-validated cis-regulatory element chr5.1314 [Gene]
LOC111556121:GATA motif-containing MPRA enhancer 36 [Gene]
HSPB3:heat shock protein family B (small) member 3 [Gene - OMIM - HGNC]
LINC01033:long intergenic non-protein coding RNA 1033 [Gene - HGNC]
SNX18:sorting nexin 18 [Gene - HGNC]

Variant type:

copy number gain

Cytogenetic location:

5q11.2

Genomic location:

Preferred name:

GRCh38/hg38 5q11.2(chr5:53969356-54618645)x3

HGVS:

NC_000005.10:g.(?_53969356)_(54618645_?)dup
NC_000005.9:g.(?_53265186)_(53914475_?)dup

Links:

dbVar: nssv3396900; dbVar: nsv995332

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
SCV000182756	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely benign (Sep 27, 2013)	maternal	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

SCV000182756

ISCA site 1

See additional submitters

no assertion criteria provided

Likely benign
(Sep 27, 2013)

maternal

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	maternal	yes	1	not provided	not provided	not provided	not provided	clinical 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, SCV000182756.4

#	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	maternal	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: May 7, 2024

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