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GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 3, 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:
RCV000142214.5

Allele description [Variation Report for GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3]

GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3

Genes:
  • LOC130009585:ATAC-STARR-seq lymphoblastoid active region 7595 [Gene]
  • LOC130009587:ATAC-STARR-seq lymphoblastoid active region 7596 [Gene]
  • LOC130009584:ATAC-STARR-seq lymphoblastoid silent region 5272 [Gene]
  • LOC130009586:ATAC-STARR-seq lymphoblastoid silent region 5273 [Gene]
  • LOC130009588:ATAC-STARR-seq lymphoblastoid silent region 5274 [Gene]
  • FREM2:FRAS1 related extracellular matrix 2 [Gene - OMIM - HGNC]
  • FREM2-AS1:FREM2 antisense RNA 1 [Gene - HGNC]
  • LOC126861744:MED14-independent group 3 enhancer GRCh37_chr13:39495093-39496292 [Gene]
  • LOC132090191:Neanderthal introgressed variant-containing enhancer experimental_32865 [Gene]
  • LOC132090192:Neanderthal introgressed variant-containing enhancer experimental_32869 [Gene]
  • LOC132090193:Neanderthal introgressed variant-containing enhancer experimental_32870 [Gene]
  • LOC124855086:Sharpr-MPRA regulatory region 14178 [Gene]
  • LOC124855085:Sharpr-MPRA regulatory region 1712 [Gene]
  • LOC112163655:Sharpr-MPRA regulatory region 5265 [Gene]
  • LOC124855087:Sharpr-MPRA regulatory region 929 [Gene]
  • LOC124855088:Sharpr-MPRA regulatory region 9586 [Gene]
  • LINC01048:long intergenic non-protein coding RNA 1048 [Gene - HGNC]
  • LINC00366:long intergenic non-protein coding RNA 366 [Gene - HGNC]
  • LINC00437:long intergenic non-protein coding RNA 437 [Gene - HGNC]
  • LINC00547:long intergenic non-protein coding RNA 547 [Gene - HGNC]
  • LINC00571:long intergenic non-protein coding RNA 571 [Gene - HGNC]
  • POSTN:periostin [Gene - OMIM - HGNC]
  • PROSER1:proline and serine rich 1 [Gene - OMIM - HGNC]
  • STOML3:stomatin like 3 [Gene - OMIM - HGNC]
  • TRPC4:transient receptor potential cation channel subfamily C member 4 [Gene - OMIM - HGNC]
  • UFM1:ubiquitin fold modifier 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q13.3
Genomic location:
Preferred name:
GRCh38/hg38 13q13.3(chr13:37156369-39010872)x3
HGVS:
  • NC_000013.11:g.(?_37156369)_(39010872_?)dup
  • NC_000013.10:g.(?_37730506)_(39585009_?)dup
Links:
dbVar: nssv3397447; dbVar: nsv996049
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
SCV000183478ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 3, 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, SCV000183478.4

#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