U.S. flag

An official website of the United States government

GRCh38/hg38 2q35(chr2:219081620-219758878)x3 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 2012
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:
RCV000138093.5

Allele description [Variation Report for GRCh38/hg38 2q35(chr2:219081620-219758878)x3]

GRCh38/hg38 2q35(chr2:219081620-219758878)x3

Genes:
  • ASIC4-AS1:ASIC4 antisense RNA 1 [Gene - HGNC]
  • LOC129935635:ATAC-STARR-seq lymphoblastoid active region 17139 [Gene]
  • LOC129935636:ATAC-STARR-seq lymphoblastoid active region 17140 [Gene]
  • LOC129935640:ATAC-STARR-seq lymphoblastoid active region 17141 [Gene]
  • LOC129935642:ATAC-STARR-seq lymphoblastoid active region 17144 [Gene]
  • LOC129935643:ATAC-STARR-seq lymphoblastoid active region 17145 [Gene]
  • LOC129935644:ATAC-STARR-seq lymphoblastoid active region 17146 [Gene]
  • LOC129935645:ATAC-STARR-seq lymphoblastoid active region 17147 [Gene]
  • LOC129935647:ATAC-STARR-seq lymphoblastoid active region 17148 [Gene]
  • LOC129935649:ATAC-STARR-seq lymphoblastoid active region 17149 [Gene]
  • LOC129935650:ATAC-STARR-seq lymphoblastoid active region 17150 [Gene]
  • LOC129935651:ATAC-STARR-seq lymphoblastoid active region 17151 [Gene]
  • LOC129935655:ATAC-STARR-seq lymphoblastoid active region 17153 [Gene]
  • LOC129935656:ATAC-STARR-seq lymphoblastoid active region 17154 [Gene]
  • LOC129935661:ATAC-STARR-seq lymphoblastoid active region 17155 [Gene]
  • LOC129935662:ATAC-STARR-seq lymphoblastoid active region 17156 [Gene]
  • LOC129935663:ATAC-STARR-seq lymphoblastoid active region 17157 [Gene]
  • LOC129935634:ATAC-STARR-seq lymphoblastoid silent region 12340 [Gene]
  • LOC129935637:ATAC-STARR-seq lymphoblastoid silent region 12342 [Gene]
  • LOC129935638:ATAC-STARR-seq lymphoblastoid silent region 12343 [Gene]
  • LOC129935639:ATAC-STARR-seq lymphoblastoid silent region 12346 [Gene]
  • LOC129935641:ATAC-STARR-seq lymphoblastoid silent region 12347 [Gene]
  • LOC129935646:ATAC-STARR-seq lymphoblastoid silent region 12351 [Gene]
  • LOC129935648:ATAC-STARR-seq lymphoblastoid silent region 12352 [Gene]
  • LOC129935652:ATAC-STARR-seq lymphoblastoid silent region 12354 [Gene]
  • LOC129935653:ATAC-STARR-seq lymphoblastoid silent region 12355 [Gene]
  • LOC129935654:ATAC-STARR-seq lymphoblastoid silent region 12356 [Gene]
  • LOC129935657:ATAC-STARR-seq lymphoblastoid silent region 12358 [Gene]
  • LOC129935658:ATAC-STARR-seq lymphoblastoid silent region 12359 [Gene]
  • LOC129935659:ATAC-STARR-seq lymphoblastoid silent region 12360 [Gene]
  • LOC129935660:ATAC-STARR-seq lymphoblastoid silent region 12361 [Gene]
  • ABCB6:ATP binding cassette subfamily B member 6 (LAN blood group) [Gene - OMIM - HGNC]
  • LOC126806517:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220199445-220200644 [Gene]
  • LOC126806519:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220469784-220470983 [Gene]
  • LOC126806520:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:220552697-220553896 [Gene]
  • LOC115947633:CRISPRi-validated cis-regulatory element chr2.6714 [Gene]
  • DNPEP-AS1:DNPEP antisense RNA 1 [Gene - HGNC]
  • DNAJB2:DnaJ heat shock protein family (Hsp40) member B2 [Gene - OMIM - HGNC]
  • LOC111501760:GATA motif-containing MPRA enhancer 279/280 [Gene]
  • GMPPA:GDP-mannose pyrophosphorylase A [Gene - OMIM - HGNC]
  • LOC112806081:MED14-independent group 3 enhancer GRCh37_chr2:220548733-220549932 [Gene]
  • LOC126806521:MED14-independent group 3 enhancer GRCh37_chr2:220563164-220564363 [Gene]
  • LOC126806518:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:220317062-220318261 [Gene]
  • SPEGNB:SPEG neighbor [Gene - HGNC]
  • LOC120977025:Sharpr-MPRA regulatory region 13803 [Gene]
  • LOC121009626:Sharpr-MPRA regulatory region 15624 [Gene]
  • LOC122861295:Sharpr-MPRA regulatory region 4906 [Gene]
  • LOC122861294:Sharpr-MPRA regulatory region 8597 [Gene]
  • LOC112806080:Sharpr-MPRA regulatory region 8639 [Gene]
  • LOC121725114:Sharpr-MPRA regulatory region 8831 [Gene]
  • LOC122861293:Sharpr-MPRA regulatory region 9830 [Gene]
  • LOC110121267:VISTA enhancer hs2169 [Gene]
  • ASIC4:acid sensing ion channel subunit family member 4 [Gene - OMIM - HGNC]
  • ANKZF1:ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 [Gene - OMIM - HGNC]
  • DNPEP:aspartyl aminopeptidase [Gene - OMIM - HGNC]
  • ATG9A:autophagy related 9A [Gene - OMIM - HGNC]
  • CHPF:chondroitin polymerizing factor [Gene - OMIM - HGNC]
  • CNPPD1:cyclin Pas1/PHO80 domain containing 1 [Gene - HGNC]
  • DES-LCR:desmin locus control region [Gene]
  • DES:desmin [Gene - OMIM - HGNC]
  • GLB1L:galactosidase beta 1 like [Gene - HGNC]
  • INHA:inhibin subunit alpha [Gene - OMIM - HGNC]
  • LINC02832:long intergenic non-protein coding RNA 2832 [Gene - HGNC]
  • MIR153-1:microRNA 153-1 [Gene - HGNC]
  • MIR3132:microRNA 3132 [Gene - HGNC]
  • NHEJ1:non-homologous end joining factor 1 [Gene - OMIM - HGNC]
  • OBSL1:obscurin like cytoskeletal adaptor 1 [Gene - OMIM - HGNC]
  • PTPRN:protein tyrosine phosphatase receptor type N [Gene - OMIM - HGNC]
  • RESP18:regulated endocrine specific protein 18 [Gene - OMIM - HGNC]
  • RETREG2:reticulophagy regulator family member 2 [Gene - HGNC]
  • STK11IP:serine/threonine kinase 11 interacting protein [Gene - OMIM - HGNC]
  • STK16:serine/threonine kinase 16 [Gene - OMIM - HGNC]
  • SLC23A3:solute carrier family 23 member 3 [Gene - OMIM - HGNC]
  • SLC4A3:solute carrier family 4 member 3 [Gene - OMIM - HGNC]
  • SPEG:striated muscle enriched protein kinase [Gene - OMIM - HGNC]
  • TMEM198:transmembrane protein 198 [Gene - HGNC]
  • TUBA4A:tubulin alpha 4a [Gene - OMIM - HGNC]
  • TUBA4B:tubulin alpha 4b [Gene - HGNC]
  • ZFAND2B:zinc finger AN1-type containing 2B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
2q35
Genomic location:
Preferred name:
GRCh38/hg38 2q35(chr2:219081620-219758878)x3
HGVS:
  • NC_000002.12:g.(?_219081620)_(219758878_?)dup
  • NC_000002.10:g.(?_219654586)_(220331844_?)dup
  • NC_000002.11:g.(?_219946342)_(220623600_?)dup
Links:
dbVar: nssv1495201; dbVar: nsv869291
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000178356ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Jan 13, 2012) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot 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, SCV000178356.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024