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GRCh38/hg38 12q24.32(chr12:126526398-127998599)x3 AND See cases

Germline classification:
conflicting data from submitters (1 submission)
Last evaluated:
Dec 10, 2012
Review status:
(0/4) 0 stars out of maximum of 4 stars
conflicting data from submitters (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:
RCV000139449.7

Allele description [Variation Report for GRCh38/hg38 12q24.32(chr12:126526398-127998599)x3]

GRCh38/hg38 12q24.32(chr12:126526398-127998599)x3

Genes:
  • LOC130009182:ATAC-STARR-seq lymphoblastoid active region 7324 [Gene]
  • LOC130009183:ATAC-STARR-seq lymphoblastoid silent region 5085 [Gene]
  • LOC130009184:ATAC-STARR-seq lymphoblastoid silent region 5086 [Gene]
  • LOC126861678:BRD4-independent group 4 enhancer GRCh37_chr12:127386923-127388122 [Gene]
  • LOC126861681:BRD4-independent group 4 enhancer GRCh37_chr12:128107825-128109024 [Gene]
  • LOC126861676:CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:127226104-127227303 [Gene]
  • LOC126861679:MED14-independent group 3 enhancer GRCh37_chr12:127610351-127611550 [Gene]
  • LOC129390587:MPRA-validated peak2032 silencer [Gene]
  • LOC129390588:MPRA-validated peak2033 silencer [Gene]
  • LOC129390589:MPRA-validated peak2034 silencer [Gene]
  • LOC129390590:MPRA-validated peak2036 silencer [Gene]
  • LOC129390591:MPRA-validated peak2041 silencer [Gene]
  • LOC126861677:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:127256382-127257581 [Gene]
  • LOC126861680:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr12:128043830-128045029 [Gene]
  • LOC112163541:Sharpr-MPRA regulatory region 13079 [Gene]
  • LOC124849281:Sharpr-MPRA regulatory region 13155 [Gene]
  • LOC124849282:Sharpr-MPRA regulatory region 9233 [Gene]
  • LINC02372:long intergenic non-protein coding RNA 2372 [Gene - HGNC]
  • LINC02375:long intergenic non-protein coding RNA 2375 [Gene - HGNC]
  • LINC02376:long intergenic non-protein coding RNA 2376 [Gene - HGNC]
  • LINC02393:long intergenic non-protein coding RNA 2393 [Gene - HGNC]
  • LINC02405:long intergenic non-protein coding RNA 2405 [Gene - HGNC]
  • LINC02411:long intergenic non-protein coding RNA 2411 [Gene - HGNC]
  • LINC02824:long intergenic non-protein coding RNA 2824 [Gene - HGNC]
  • LINC00507:long intergenic non-protein coding RNA 507 [Gene - HGNC]
  • LINC00508:long intergenic non-protein coding RNA 508 [Gene - HGNC]
  • LINC00943:long intergenic non-protein coding RNA 943 [Gene - HGNC]
  • LINC00944:long intergenic non-protein coding RNA 944 [Gene - HGNC]
  • LOC100996671:uncharacterized LOC100996671 [Gene]
  • LOC105370068:uncharacterized LOC105370068 [Gene]
Variant type:
copy number gain
Cytogenetic location:
12q24.32
Genomic location:
Preferred name:
GRCh38/hg38 12q24.32(chr12:126526398-127998599)x3
HGVS:
  • NC_000012.12:g.(?_126526398)_(127998599_?)dup
  • NC_000012.10:g.(?_125576897)_(127049097_?)dup
  • NC_000012.11:g.(?_127010944)_(128483144_?)dup
Links:
dbVar: nssv1604144; dbVar: nssv1608892; dbVar: nsv916911
Observations:
2

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000180005ISCA site 1

See additional submitters

no assertion criteria provided
conflicting data from submitters
(Dec 10, 2012) 		unknown, maternalclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing
humannot providedyes1not providednot providednot providednot providedclinical 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, SCV000180005.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2human1not providednot providedclinical testing PubMed (1)

Description

Uncertain significance(1), Likely benign (1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024