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GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 4, 2013
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:
RCV000140881.5

Allele description [Variation Report for GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3]

GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3

Genes:
  • LOC129937505:ATAC-STARR-seq lymphoblastoid active region 20475 [Gene]
  • LOC129937509:ATAC-STARR-seq lymphoblastoid active region 20476 [Gene]
  • LOC129937511:ATAC-STARR-seq lymphoblastoid active region 20477 [Gene]
  • LOC129937513:ATAC-STARR-seq lymphoblastoid active region 20478 [Gene]
  • LOC129937514:ATAC-STARR-seq lymphoblastoid active region 20479 [Gene]
  • LOC129937515:ATAC-STARR-seq lymphoblastoid active region 20482 [Gene]
  • LOC129937516:ATAC-STARR-seq lymphoblastoid active region 20483 [Gene]
  • LOC129937504:ATAC-STARR-seq lymphoblastoid silent region 14697 [Gene]
  • LOC129937506:ATAC-STARR-seq lymphoblastoid silent region 14699 [Gene]
  • LOC129937507:ATAC-STARR-seq lymphoblastoid silent region 14700 [Gene]
  • LOC129937508:ATAC-STARR-seq lymphoblastoid silent region 14701 [Gene]
  • LOC129937510:ATAC-STARR-seq lymphoblastoid silent region 14702 [Gene]
  • LOC129937512:ATAC-STARR-seq lymphoblastoid silent region 14703 [Gene]
  • LOC117038769:CRISPRi-FlowFISH-validated H1-10 regulatory element 1 [Gene]
  • LOC117011629:CRISPRi-FlowFISH-validated RPN1 regulatory element 1 [Gene]
  • LOC117038770:CRISPRi-FlowFISH-validated RPN1 regulatory element 2 [Gene]
  • LOC115995518:CRISPRi-validated cis-regulatory element chr3.3676 [Gene]
  • LOC115995519:CRISPRi-validated cis-regulatory element chr3.3677 [Gene]
  • LOC115995520:CRISPRi-validated cis-regulatory element chr3.3678 [Gene]
  • LOC115995521:CRISPRi-validated cis-regulatory element chr3.3679 [Gene]
  • LOC126806805:MED14-independent group 3 enhancer GRCh37_chr3:127536190-127537389 [Gene]
  • RUVBL1-AS1:RUVBL1 antisense RNA 1 [Gene - HGNC]
  • RUVBL1:RuvB like AAA ATPase 1 [Gene - OMIM - HGNC]
  • SEC61A1:SEC61 translocon subunit alpha 1 [Gene - OMIM - HGNC]
  • LOC123038176:Sharpr-MPRA regulatory region 10596 [Gene]
  • LOC123038172:Sharpr-MPRA regulatory region 11416 [Gene]
  • LOC123038174:Sharpr-MPRA regulatory region 3031 [Gene]
  • LOC123038171:Sharpr-MPRA regulatory region 3038 [Gene]
  • LOC123038173:Sharpr-MPRA regulatory region 8761 [Gene]
  • LOC123038175:Sharpr-MPRA regulatory regions 13692 and 14760 [Gene]
  • LOC121045486:Sharpr-MPRA regulatory regions 9818 and 11773 [Gene]
  • EEFSEC:eukaryotic elongation factor, selenocysteine-tRNA specific [Gene - OMIM - HGNC]
  • KBTBD12:kelch repeat and BTB domain containing 12 [Gene - HGNC]
  • MGLL:monoglyceride lipase [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
3q21.3
Genomic location:
Preferred name:
GRCh38/hg38 3q21.3(chr3:127818502-128451950)x3
HGVS:
  • NC_000003.12:g.(?_127818502)_(128451950_?)dup
  • NC_000003.11:g.(?_127537345)_(128170793_?)dup
Links:
dbVar: nssv1610418; dbVar: nsv932223
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
SCV000181704ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Mar 4, 2013) 		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 1, SCV000181704.4

#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