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GRCh38/hg38 13q32.2-32.3(chr13:97674476-99498445)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000052030.6

Allele description [Variation Report for GRCh38/hg38 13q32.2-32.3(chr13:97674476-99498445)x3]

GRCh38/hg38 13q32.2-32.3(chr13:97674476-99498445)x3

Genes:
  • LOC130009989:ATAC-STARR-seq lymphoblastoid active region 7895 [Gene]
  • LOC130009990:ATAC-STARR-seq lymphoblastoid active region 7896 [Gene]
  • LOC130009991:ATAC-STARR-seq lymphoblastoid active region 7897 [Gene]
  • LOC130009996:ATAC-STARR-seq lymphoblastoid active region 7898 [Gene]
  • LOC130009997:ATAC-STARR-seq lymphoblastoid active region 7899 [Gene]
  • LOC130009998:ATAC-STARR-seq lymphoblastoid active region 7904 [Gene]
  • LOC130009999:ATAC-STARR-seq lymphoblastoid active region 7905 [Gene]
  • LOC130010000:ATAC-STARR-seq lymphoblastoid active region 7908 [Gene]
  • LOC130010001:ATAC-STARR-seq lymphoblastoid active region 7909 [Gene]
  • LOC130010002:ATAC-STARR-seq lymphoblastoid active region 7910 [Gene]
  • LOC130010003:ATAC-STARR-seq lymphoblastoid active region 7911 [Gene]
  • LOC130010004:ATAC-STARR-seq lymphoblastoid active region 7912 [Gene]
  • LOC130010005:ATAC-STARR-seq lymphoblastoid active region 7913 [Gene]
  • LOC130010006:ATAC-STARR-seq lymphoblastoid active region 7914 [Gene]
  • LOC130010007:ATAC-STARR-seq lymphoblastoid active region 7915 [Gene]
  • LOC130010008:ATAC-STARR-seq lymphoblastoid active region 7916 [Gene]
  • LOC130010009:ATAC-STARR-seq lymphoblastoid active region 7917 [Gene]
  • LOC130010014:ATAC-STARR-seq lymphoblastoid active region 7919 [Gene]
  • LOC130010015:ATAC-STARR-seq lymphoblastoid active region 7920 [Gene]
  • LOC130010016:ATAC-STARR-seq lymphoblastoid active region 7921 [Gene]
  • LOC130010018:ATAC-STARR-seq lymphoblastoid active region 7922 [Gene]
  • LOC130010019:ATAC-STARR-seq lymphoblastoid active region 7923 [Gene]
  • LOC130010020:ATAC-STARR-seq lymphoblastoid active region 7924 [Gene]
  • LOC130010021:ATAC-STARR-seq lymphoblastoid active region 7925 [Gene]
  • LOC130010024:ATAC-STARR-seq lymphoblastoid active region 7926 [Gene]
  • LOC130010025:ATAC-STARR-seq lymphoblastoid active region 7927 [Gene]
  • LOC130010028:ATAC-STARR-seq lymphoblastoid active region 7928 [Gene]
  • LOC130010030:ATAC-STARR-seq lymphoblastoid active region 7931 [Gene]
  • LOC130010031:ATAC-STARR-seq lymphoblastoid active region 7932 [Gene]
  • LOC130010033:ATAC-STARR-seq lymphoblastoid active region 7933 [Gene]
  • LOC130010034:ATAC-STARR-seq lymphoblastoid active region 7934 [Gene]
  • LOC130010035:ATAC-STARR-seq lymphoblastoid active region 7935 [Gene]
  • LOC130010036:ATAC-STARR-seq lymphoblastoid active region 7936 [Gene]
  • LOC130010037:ATAC-STARR-seq lymphoblastoid active region 7937 [Gene]
  • LOC130010038:ATAC-STARR-seq lymphoblastoid active region 7938 [Gene]
  • LOC130010039:ATAC-STARR-seq lymphoblastoid active region 7939 [Gene]
  • LOC130010040:ATAC-STARR-seq lymphoblastoid active region 7940 [Gene]
  • LOC130010041:ATAC-STARR-seq lymphoblastoid active region 7941 [Gene]
  • LOC130010042:ATAC-STARR-seq lymphoblastoid active region 7942 [Gene]
  • LOC130010043:ATAC-STARR-seq lymphoblastoid active region 7943 [Gene]
  • LOC130010044:ATAC-STARR-seq lymphoblastoid active region 7944 [Gene]
  • LOC130010045:ATAC-STARR-seq lymphoblastoid active region 7945 [Gene]
  • LOC130010046:ATAC-STARR-seq lymphoblastoid active region 7947 [Gene]
  • LOC130010047:ATAC-STARR-seq lymphoblastoid active region 7948 [Gene]
  • LOC130009992:ATAC-STARR-seq lymphoblastoid silent region 5453 [Gene]
  • LOC130009993:ATAC-STARR-seq lymphoblastoid silent region 5454 [Gene]
  • LOC130009994:ATAC-STARR-seq lymphoblastoid silent region 5455 [Gene]
  • LOC130009995:ATAC-STARR-seq lymphoblastoid silent region 5456 [Gene]
  • LOC130010010:ATAC-STARR-seq lymphoblastoid silent region 5457 [Gene]
  • LOC130010011:ATAC-STARR-seq lymphoblastoid silent region 5458 [Gene]
  • LOC130010012:ATAC-STARR-seq lymphoblastoid silent region 5459 [Gene]
  • LOC130010013:ATAC-STARR-seq lymphoblastoid silent region 5460 [Gene]
  • LOC130010017:ATAC-STARR-seq lymphoblastoid silent region 5461 [Gene]
  • LOC130010022:ATAC-STARR-seq lymphoblastoid silent region 5462 [Gene]
  • LOC130010023:ATAC-STARR-seq lymphoblastoid silent region 5465 [Gene]
  • LOC130010026:ATAC-STARR-seq lymphoblastoid silent region 5466 [Gene]
  • LOC130010027:ATAC-STARR-seq lymphoblastoid silent region 5467 [Gene]
  • LOC130010029:ATAC-STARR-seq lymphoblastoid silent region 5469 [Gene]
  • LOC130010032:ATAC-STARR-seq lymphoblastoid silent region 5470 [Gene]
  • LOC126861820:BRD4-independent group 4 enhancer GRCh37_chr13:99437954-99439153 [Gene]
  • LOC126861822:BRD4-independent group 4 enhancer GRCh37_chr13:99553940-99555139 [Gene]
  • LOC126861821:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:99459441-99460640 [Gene]
  • LOC126861823:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:99644283-99645482 [Gene]
  • LOC126861825:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:99811198-99812397 [Gene]
  • DOCK9-AS1:DOCK9 antisense RNA 1 [Gene - HGNC]
  • DOCK9-DT:DOCK9 divergent transcript [Gene - HGNC]
  • FARP1-AS1:FARP1 antisense RNA 1 [Gene - HGNC]
  • FARP1:FERM, ARH/RhoGEF and pleckstrin domain protein 1 [Gene - OMIM - HGNC]
  • FKSG29:FKSG29 [Gene]
  • GPR183:G protein-coupled receptor 183 [Gene - OMIM - HGNC]
  • GPR18:G protein-coupled receptor 18 [Gene - OMIM - HGNC]
  • LOC126861818:MED14-independent group 3 enhancer GRCh37_chr13:98381876-98383075 [Gene]
  • LOC126861819:MED14-independent group 3 enhancer GRCh37_chr13:99222661-99223860 [Gene]
  • LOC129390609:MPRA-validated peak2103 silencer [Gene]
  • LOC132090866:Neanderthal introgressed variant-containing enhancer experimental_33558 [Gene]
  • LOC126861827:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:100084644-100085843 [Gene]
  • LOC121838582:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:99128412-99129611 [Gene]
  • LOC126861824:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:99719017-99720216 [Gene]
  • LOC126861826:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:99966417-99967616 [Gene]
  • STK24-AS1:STK24 antisense RNA 1 [Gene - HGNC]
  • LOC121468003:Sharpr-MPRA regulatory region 10209 [Gene]
  • LOC124909515:Sharpr-MPRA regulatory region 11603 [Gene]
  • LOC124909517:Sharpr-MPRA regulatory region 11628 [Gene]
  • LOC124946325:Sharpr-MPRA regulatory region 1899 [Gene]
  • LOC124909514:Sharpr-MPRA regulatory region 2492 [Gene]
  • LOC124946327:Sharpr-MPRA regulatory region 5830 [Gene]
  • LOC124909518:Sharpr-MPRA regulatory region 8410 [Gene]
  • LOC124946326:Sharpr-MPRA regulatory region 8816 [Gene]
  • LOC124909516:Sharpr-MPRA regulatory region 8978 [Gene]
  • LOC124909519:Sharpr-MPRA regulatory region 9599 [Gene]
  • UBAC2:UBA domain containing 2 [Gene - HGNC]
  • UBAC2-AS1:UBAC2 antisense RNA 1 [Gene - HGNC]
  • DOCK9:dedicator of cytokinesis 9 [Gene - OMIM - HGNC]
  • IPO5:importin 5 [Gene - OMIM - HGNC]
  • LINC01232:long intergenic non-protein coding RNA 1232 [Gene - HGNC]
  • MIR3170:microRNA 3170 [Gene - HGNC]
  • MIR623:microRNA 623 [Gene - HGNC]
  • RNF113B:ring finger protein 113B [Gene - HGNC]
  • STK24:serine/threonine kinase 24 [Gene - OMIM - HGNC]
  • SLC15A1:solute carrier family 15 member 1 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
13q32.2-32.3
Genomic location:
Preferred name:
GRCh38/hg38 13q32.2-32.3(chr13:97674476-99498445)x3
HGVS:
  • NC_000013.11:g.(?_97674476)_(99498445_?)dup
  • NC_000013.10:g.(?_98326730)_(100150699_?)dup
  • NC_000013.9:g.(?_97124731)_(98948700_?)dup
Links:
dbVar: nssv580828; dbVar: nsv530743
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
SCV000079379GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Uncertain significance
(Aug 12, 2011) 		paternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000079379.6

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

Last Updated: Oct 14, 2023