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GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 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:
RCV000135390.6

Allele description [Variation Report for GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3]

GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3

Genes:
  • LOC130007173:ATAC-STARR-seq lymphoblastoid active region 5810 [Gene]
  • LOC130007174:ATAC-STARR-seq lymphoblastoid active region 5811 [Gene]
  • LOC130007176:ATAC-STARR-seq lymphoblastoid active region 5812 [Gene]
  • LOC130007177:ATAC-STARR-seq lymphoblastoid active region 5813 [Gene]
  • LOC130007180:ATAC-STARR-seq lymphoblastoid active region 5814 [Gene]
  • LOC130007175:ATAC-STARR-seq lymphoblastoid silent region 4122 [Gene]
  • LOC130007178:ATAC-STARR-seq lymphoblastoid silent region 4127 [Gene]
  • LOC130007179:ATAC-STARR-seq lymphoblastoid silent region 4128 [Gene]
  • CACNA1C-AS4:CACNA1C antisense RNA 4 [Gene - HGNC]
  • CACNA1C-IT1:CACNA1C intronic transcript 1 [Gene - HGNC]
  • CACNA1C-IT2:CACNA1C intronic transcript 2 [Gene - HGNC]
  • CACNA1C-IT3:CACNA1C intronic transcript 3 [Gene - HGNC]
  • LOC126861416:MED14-independent group 3 enhancer GRCh37_chr12:2063223-2064422 [Gene]
  • LOC126861417:MED14-independent group 3 enhancer GRCh37_chr12:2629110-2630309 [Gene]
  • LOC124625880:Sharpr-MPRA regulatory region 10568 [Gene]
  • LOC124625879:Sharpr-MPRA regulatory region 2999 [Gene]
  • LOC112136100:Sharpr-MPRA regulatory region 5038 [Gene]
  • LOC124625881:Sharpr-MPRA regulatory region 515 [Gene]
  • ADIPOR2:adiponectin receptor 2 [Gene - OMIM - HGNC]
  • CACNA2D4:calcium voltage-gated channel auxiliary subunit alpha2delta 4 [Gene - OMIM - HGNC]
  • CACNA1C:calcium voltage-gated channel subunit alpha1 C [Gene - OMIM - HGNC]
  • DCP1B:decapping mRNA 1B [Gene - OMIM - HGNC]
  • LRTM2:leucine rich repeats and transmembrane domains 2 [Gene - HGNC]
  • LINC00940:long intergenic non-protein coding RNA 940 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12p13.33
Genomic location:
Preferred name:
GRCh38/hg38 12p13.33(chr12:1678885-2546760)x3
HGVS:
  • NC_000012.12:g.(?_1678885)_(2546760_?)dup
  • NC_000012.11:g.(?_1788051)_(2655926_?)dup
Links:
dbVar: nssv585324; dbVar: nsv498604
Observations:
1

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
SCV000175070ISCA Site 6

See additional submitters

no assertion criteria provided
Uncertain significance
(Nov 30, 2010) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot 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 6, SCV000175070.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024