GRCh38/hg38 12q24.33(chr12:131973151-132102145)x1 AND See cases

Germline classification:: Likely benign (1 submission)
Last evaluated:: Aug 5, 2011
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:: RCV000137285.6

Allele description [Variation Report for GRCh38/hg38 12q24.33(chr12:131973151-132102145)x1]

GRCh38/hg38 12q24.33(chr12:131973151-132102145)x1

Genes:

LOC130009243:ATAC-STARR-seq lymphoblastoid silent region 5110 [Gene]
LOC130009244:ATAC-STARR-seq lymphoblastoid silent region 5111 [Gene]
LOC126861696:BRD4-independent group 4 enhancer GRCh37_chr12:132508440-132509639 [Gene]
LOC126861695:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:132490339-132491538 [Gene]
EP400:E1A binding protein p400 [Gene - OMIM - HGNC]
LOC124849291:Sharpr-MPRA regulatory region 9648 [Gene]
SNORA49:small nucleolar RNA, H/ACA box 49 [Gene - HGNC]

Variant type:

copy number loss

Cytogenetic location:

12q24.33

Genomic location:

Preferred name:

GRCh38/hg38 12q24.33(chr12:131973151-132102145)x1

HGVS:

NC_000012.12:g.(?_131973151)_(132102145_?)del
NC_000012.10:g.(?_131023649)_(131152643_?)del
NC_000012.11:g.(?_132457696)_(132586690_?)del

Links:

dbVar: nssv1415077; dbVar: nsv817208

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
SCV000177503	ISCA site 1 See additional submitters International Standards For Cytogenomic Arrays Consortium (ISCA)	no assertion criteria provided	Likely benign (Aug 5, 2011)	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

SCV000177503

ISCA site 1

See additional submitters

no assertion criteria provided

Likely benign
(Aug 5, 2011)

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, SCV000177503.4

#	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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