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GRCh38/hg38 12p11.1(chr12:33392359-34603261)x3 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 21, 2012
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:
RCV000142909.5

Allele description [Variation Report for GRCh38/hg38 12p11.1(chr12:33392359-34603261)x3]

GRCh38/hg38 12p11.1(chr12:33392359-34603261)x3

Genes:
  • ALG10:ALG10 alpha-1,2-glucosyltransferase [Gene - OMIM - HGNC]
  • LOC130007666:ATAC-STARR-seq lymphoblastoid silent region 4343 [Gene]
  • LOC116268437:CRISPRi-validated cis-regulatory element chr12.1007 [Gene]
  • LOC126861500:MED14-independent group 3 enhancer GRCh37_chr12:34201439-34202638 [Gene]
  • LOC129390435:MPRA-validated peak1673 silencer [Gene]
  • LOC129390436:MPRA-validated peak1674 silencer [Gene]
  • LOC129390437:MPRA-validated peak1675 silencer [Gene]
  • LOC132090105:Neanderthal introgressed variant-containing enhancer experimental_28337 [Gene]
  • LOC121832831:Sharpr-MPRA regulatory region 3620 [Gene]
  • LINC02963:long intergenic non-protein coding RNA 2963 [Gene - HGNC]
  • SYT10:synaptotagmin 10 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
12p11.1
Genomic location:
Preferred name:
GRCh38/hg38 12p11.1(chr12:33392359-34603261)x3
HGVS:
  • NC_000012.12:g.(?_33392359)_(34603261_?)dup
  • NC_000012.10:g.(?_33436561)_(34647463_?)dup
  • NC_000012.11:g.(?_33545294)_(34756196_?)dup
Links:
dbVar: nssv1602088; dbVar: nssv1602283; dbVar: nssv1604219; dbVar: nsv916130
Observations:
3

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
SCV000179250ISCA site 4

See additional submitters

no assertion criteria provided
Likely benign
(Sep 21, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes3not 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 4, SCV000179250.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided
3unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024