GRCh38/hg38 9q34.3(chr9:134543703-134725867)x1 AND See cases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 3, 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:: RCV000142231.6

Allele description [Variation Report for GRCh38/hg38 9q34.3(chr9:134543703-134725867)x1]

GRCh38/hg38 9q34.3(chr9:134543703-134725867)x1

Genes:

LOC130002963:ATAC-STARR-seq lymphoblastoid active region 29285 [Gene]
COL5A1-AS1:COL5A1 antisense RNA 1 [Gene - HGNC]
COL5A1:collagen type V alpha 1 chain [Gene - OMIM - HGNC]
LOC100506532:uncharacterized LOC100506532 [Gene]

Variant type:

copy number loss

Cytogenetic location:

9q34.3

Genomic location:

Preferred name:

GRCh38/hg38 9q34.3(chr9:134543703-134725867)x1

HGVS:

NC_000009.12:g.(?_134543703)_(134725867_?)del
NC_000009.10:g.(?_136575370)_(136757534_?)del
NC_000009.11:g.(?_137435549)_(137617713_?)del

Links:

dbVar: nssv3395231; dbVar: nsv996075

Observations:

Condition(s)

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

Recent activity

Clear Turn Off Turn On

SAMD00656875 (1)
SRA

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000183504	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Pathogenic (Dec 3, 2013)	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

SCV000183504

ISCA site 1

See additional submitters

no assertion criteria provided

Pathogenic
(Dec 3, 2013)

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

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, SCV000183504.4

#	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

ClinVar

Relating variation to medicine