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GRCh38/hg38 6q21(chr6:105833853-106582592)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 25, 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:
RCV000143257.6

Allele description [Variation Report for GRCh38/hg38 6q21(chr6:105833853-106582592)x3]

GRCh38/hg38 6q21(chr6:105833853-106582592)x3

Genes:
  • LOC129996899:ATAC-STARR-seq lymphoblastoid active region 24877 [Gene]
  • LOC129996900:ATAC-STARR-seq lymphoblastoid active region 24878 [Gene]
  • LOC129996901:ATAC-STARR-seq lymphoblastoid active region 24883 [Gene]
  • LOC129996903:ATAC-STARR-seq lymphoblastoid active region 24884 [Gene]
  • LOC129996904:ATAC-STARR-seq lymphoblastoid active region 24885 [Gene]
  • LOC129996906:ATAC-STARR-seq lymphoblastoid active region 24888 [Gene]
  • LOC129996907:ATAC-STARR-seq lymphoblastoid active region 24889 [Gene]
  • LOC129996909:ATAC-STARR-seq lymphoblastoid active region 24891 [Gene]
  • LOC129996898:ATAC-STARR-seq lymphoblastoid silent region 17429 [Gene]
  • LOC129996902:ATAC-STARR-seq lymphoblastoid silent region 17430 [Gene]
  • LOC129996905:ATAC-STARR-seq lymphoblastoid silent region 17431 [Gene]
  • LOC129996908:ATAC-STARR-seq lymphoblastoid silent region 17433 [Gene]
  • LOC126859754:BRD4-independent group 4 enhancer GRCh37_chr6:106332509-106333708 [Gene]
  • LOC126859756:BRD4-independent group 4 enhancer GRCh37_chr6:106582537-106583736 [Gene]
  • LOC126859757:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:106967140-106968339 [Gene]
  • LOC126859755:MED14-independent group 3 enhancer GRCh37_chr6:106546043-106547242 [Gene]
  • LOC129389598:MPRA-validated peak5998 silencer [Gene]
  • LOC129389599:MPRA-validated peak6001 silencer [Gene]
  • LOC129389600:MPRA-validated peak6003 silencer [Gene]
  • PRDM1:PR/SET domain 1 [Gene - OMIM - HGNC]
  • LOC123775392:Sharpr-MPRA regulatory region 9287 [Gene]
  • ATG5:autophagy related 5 [Gene - OMIM - HGNC]
  • CRYBG1:crystallin beta-gamma domain containing 1 [Gene - OMIM - HGNC]
  • RTN4IP1:reticulon 4 interacting protein 1 [Gene - OMIM - HGNC]
  • LOC105377924:uncharacterized LOC105377924 [Gene]
Variant type:
copy number gain
Cytogenetic location:
6q21
Genomic location:
Preferred name:
GRCh38/hg38 6q21(chr6:105833853-106582592)x3
HGVS:
  • NC_000006.12:g.(?_105833853)_(106582592_?)dup
  • NC_000006.10:g.(?_106388421)_(107137160_?)dup
  • NC_000006.11:g.(?_106281728)_(107030467_?)dup
Links:
dbVar: nssv1610347; dbVar: nsv932155
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
SCV000181638ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 25, 2013) 		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

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, SCV000181638.4

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

Last Updated: May 7, 2024