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GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3 AND See cases

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 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:
RCV000142704.5

Allele description [Variation Report for GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3]

GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3

Genes:
  • LOC130065045:ATAC-STARR-seq lymphoblastoid active region 15032 [Gene]
  • LOC130065046:ATAC-STARR-seq lymphoblastoid active region 15033 [Gene]
  • LOC130065047:ATAC-STARR-seq lymphoblastoid active region 15034 [Gene]
  • LOC130065048:ATAC-STARR-seq lymphoblastoid active region 15035 [Gene]
  • LOC126862921:BRD4-independent group 4 enhancer GRCh37_chr19:52350575-52351774 [Gene]
  • LOC126862922:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:52568267-52569466 [Gene]
  • LOC126862923:CDK7 strongly-dependent group 2 enhancer GRCh37_chr19:52573383-52574582 [Gene]
  • LOC132090551:Neanderthal introgressed variant-containing enhancer experimental_51593 [Gene]
  • LOC125384531:Sharpr-MPRA regulatory region 3543 [Gene]
  • ZNF350-AS1:ZNF350 antisense RNA 1 [Gene - HGNC]
  • ZNF649-AS1:ZNF649 antisense RNA 1 [Gene - HGNC]
  • FPR2:formyl peptide receptor 2 [Gene - OMIM - HGNC]
  • FPR3:formyl peptide receptor 3 [Gene - OMIM - HGNC]
  • ZNF350:zinc finger protein 350 [Gene - OMIM - HGNC]
  • ZNF432:zinc finger protein 432 [Gene - OMIM - HGNC]
  • ZNF577:zinc finger protein 577 [Gene - HGNC]
  • ZNF613:zinc finger protein 613 [Gene - HGNC]
  • ZNF614:zinc finger protein 614 [Gene - HGNC]
  • ZNF615:zinc finger protein 615 [Gene - HGNC]
  • ZNF616:zinc finger protein 616 [Gene - HGNC]
  • ZNF649:zinc finger protein 649 [Gene - OMIM - HGNC]
  • ZNF841:zinc finger protein 841 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
19q13.41
Genomic location:
Preferred name:
GRCh38/hg38 19q13.41(chr19:51769103-52124150)x3
HGVS:
  • NC_000019.10:g.(?_51769103)_(52124150_?)dup
  • NC_000019.8:g.(?_56964168)_(57319215_?)dup
  • NC_000019.9:g.(?_52272356)_(52627403_?)dup
Links:
dbVar: nssv581634; dbVar: nsv534202
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
SCV000176980ISCA site 8

See additional submitters

no assertion criteria provided
Benign
(Jan 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 8, SCV000176980.3

#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