GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3 AND See cases

This record was updated by the submitter. Please see the current version.

Germline classification:: Benign (1 submission)
Last evaluated:: Jan 30, 2010
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:: RCV000136816.4

Allele description

GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3

Genes:

LOC129931688:ATAC-STARR-seq lymphoblastoid active region 1912 [Gene]
LOC129931690:ATAC-STARR-seq lymphoblastoid active region 1914 [Gene]
LOC129931691:ATAC-STARR-seq lymphoblastoid active region 1915 [Gene]
LOC129931692:ATAC-STARR-seq lymphoblastoid active region 1916 [Gene]
LOC129931687:ATAC-STARR-seq lymphoblastoid silent region 1457 [Gene]
LOC129931689:ATAC-STARR-seq lymphoblastoid silent region 1458 [Gene]
LOC129931693:ATAC-STARR-seq lymphoblastoid silent region 1459 [Gene]
ATP1A2:ATPase Na+/K+ transporting subunit alpha 2 [Gene - OMIM - HGNC]
ATP1A4:ATPase Na+/K+ transporting subunit alpha 4 [Gene - OMIM - HGNC]
LOC126805890:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160093987-160095186 [Gene]
LOC126805891:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:160143677-160144876 [Gene]
DCAF8:DDB1 and CUL4 associated factor 8 [Gene - OMIM - HGNC]
LOC132090667:Neanderthal introgressed variant-containing enhancer experimental_419 [Gene]
LOC112577506:Sharpr-MPRA regulatory region 5459 [Gene]
CASQ1:calsequestrin 1 [Gene - OMIM - HGNC]
IGSF8:immunoglobulin superfamily member 8 [Gene - OMIM - HGNC]
KCNJ10:potassium inwardly rectifying channel subfamily J member 10 [Gene - OMIM - HGNC]
KCNJ9:potassium inwardly rectifying channel subfamily J member 9 [Gene - OMIM - HGNC]
PEA15:proliferation and apoptosis adaptor protein 15 [Gene - OMIM - HGNC]
LOC729867:uncharacterized LOC729867 [Gene]

Variant type:

copy number gain

Cytogenetic location:

1q23.2

Genomic location:

Preferred name:

GRCh38/hg38 1q23.2(chr1:160059626-160217512)x3

HGVS:

NC_000001.11:g.(?_160059626)_(160217512_?)dup
NC_000001.10:g.(?_160029416)_(160187302_?)dup
NC_000001.9:g.(?_158296040)_(158453926_?)dup

Links:

dbVar: nssv581610; dbVar: nsv534165

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
SCV000176941	ISCA site 8 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Benign (Jan 30, 2010)	tested-inconclusive	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

SCV000176941

ISCA site 8

See additional submitters

no assertion criteria provided

Benign
(Jan 30, 2010)

tested-inconclusive

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	tested-inconclusive	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 8, SCV000176941.3

#	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	tested-inconclusive	yes	not provided	not provided	Discovery		1	not provided	not provided	not provided

Last Updated: Oct 14, 2023

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