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GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 27, 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:
RCV000143423.6

Allele description [Variation Report for GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1]

GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1

Genes:
  • LOC129935961:ATAC-STARR-seq lymphoblastoid active region 17393 [Gene]
  • LOC129935963:ATAC-STARR-seq lymphoblastoid active region 17394 [Gene]
  • LOC129935964:ATAC-STARR-seq lymphoblastoid active region 17395 [Gene]
  • LOC129935968:ATAC-STARR-seq lymphoblastoid active region 17396 [Gene]
  • LOC129935970:ATAC-STARR-seq lymphoblastoid active region 17397 [Gene]
  • LOC129935974:ATAC-STARR-seq lymphoblastoid active region 17398 [Gene]
  • LOC129935975:ATAC-STARR-seq lymphoblastoid active region 17399 [Gene]
  • LOC129935976:ATAC-STARR-seq lymphoblastoid active region 17400 [Gene]
  • LOC129935977:ATAC-STARR-seq lymphoblastoid active region 17401 [Gene]
  • LOC129935982:ATAC-STARR-seq lymphoblastoid active region 17403 [Gene]
  • LOC129935983:ATAC-STARR-seq lymphoblastoid active region 17404 [Gene]
  • LOC129935984:ATAC-STARR-seq lymphoblastoid active region 17405 [Gene]
  • LOC129935985:ATAC-STARR-seq lymphoblastoid active region 17406 [Gene]
  • LOC129935986:ATAC-STARR-seq lymphoblastoid active region 17407 [Gene]
  • LOC129935987:ATAC-STARR-seq lymphoblastoid active region 17408 [Gene]
  • LOC129935988:ATAC-STARR-seq lymphoblastoid active region 17409 [Gene]
  • LOC129935991:ATAC-STARR-seq lymphoblastoid active region 17412 [Gene]
  • LOC129935992:ATAC-STARR-seq lymphoblastoid active region 17413 [Gene]
  • LOC129935994:ATAC-STARR-seq lymphoblastoid active region 17414 [Gene]
  • LOC129935995:ATAC-STARR-seq lymphoblastoid active region 17415 [Gene]
  • LOC129935996:ATAC-STARR-seq lymphoblastoid active region 17416 [Gene]
  • LOC129935998:ATAC-STARR-seq lymphoblastoid active region 17417 [Gene]
  • LOC129935999:ATAC-STARR-seq lymphoblastoid active region 17418 [Gene]
  • LOC129936003:ATAC-STARR-seq lymphoblastoid active region 17419 [Gene]
  • LOC129936006:ATAC-STARR-seq lymphoblastoid active region 17420 [Gene]
  • LOC129936007:ATAC-STARR-seq lymphoblastoid active region 17421 [Gene]
  • LOC129936010:ATAC-STARR-seq lymphoblastoid active region 17422 [Gene]
  • LOC129936011:ATAC-STARR-seq lymphoblastoid active region 17423 [Gene]
  • LOC129936013:ATAC-STARR-seq lymphoblastoid active region 17424 [Gene]
  • LOC129936016:ATAC-STARR-seq lymphoblastoid active region 17427 [Gene]
  • LOC129936019:ATAC-STARR-seq lymphoblastoid active region 17428 [Gene]
  • LOC129936025:ATAC-STARR-seq lymphoblastoid active region 17429 [Gene]
  • LOC129936033:ATAC-STARR-seq lymphoblastoid active region 17430 [Gene]
  • LOC129936034:ATAC-STARR-seq lymphoblastoid active region 17431 [Gene]
  • LOC129935960:ATAC-STARR-seq lymphoblastoid silent region 12504 [Gene]
  • LOC129935962:ATAC-STARR-seq lymphoblastoid silent region 12506 [Gene]
  • LOC129935965:ATAC-STARR-seq lymphoblastoid silent region 12507 [Gene]
  • LOC129935966:ATAC-STARR-seq lymphoblastoid silent region 12510 [Gene]
  • LOC129935967:ATAC-STARR-seq lymphoblastoid silent region 12511 [Gene]
  • LOC129935969:ATAC-STARR-seq lymphoblastoid silent region 12512 [Gene]
  • LOC129935971:ATAC-STARR-seq lymphoblastoid silent region 12513 [Gene]
  • LOC129935972:ATAC-STARR-seq lymphoblastoid silent region 12514 [Gene]
  • LOC129935973:ATAC-STARR-seq lymphoblastoid silent region 12515 [Gene]
  • LOC129935978:ATAC-STARR-seq lymphoblastoid silent region 12516 [Gene]
  • LOC129935979:ATAC-STARR-seq lymphoblastoid silent region 12517 [Gene]
  • LOC129935980:ATAC-STARR-seq lymphoblastoid silent region 12518 [Gene]
  • LOC129935981:ATAC-STARR-seq lymphoblastoid silent region 12519 [Gene]
  • LOC129935989:ATAC-STARR-seq lymphoblastoid silent region 12522 [Gene]
  • LOC129935990:ATAC-STARR-seq lymphoblastoid silent region 12525 [Gene]
  • LOC129935993:ATAC-STARR-seq lymphoblastoid silent region 12526 [Gene]
  • LOC129935997:ATAC-STARR-seq lymphoblastoid silent region 12527 [Gene]
  • LOC129936000:ATAC-STARR-seq lymphoblastoid silent region 12528 [Gene]
  • LOC129936001:ATAC-STARR-seq lymphoblastoid silent region 12529 [Gene]
  • LOC129936002:ATAC-STARR-seq lymphoblastoid silent region 12530 [Gene]
  • LOC129936004:ATAC-STARR-seq lymphoblastoid silent region 12531 [Gene]
  • LOC129936005:ATAC-STARR-seq lymphoblastoid silent region 12532 [Gene]
  • LOC129936008:ATAC-STARR-seq lymphoblastoid silent region 12533 [Gene]
  • LOC129936009:ATAC-STARR-seq lymphoblastoid silent region 12534 [Gene]
  • LOC129936012:ATAC-STARR-seq lymphoblastoid silent region 12535 [Gene]
  • LOC129936014:ATAC-STARR-seq lymphoblastoid silent region 12537 [Gene]
  • LOC129936015:ATAC-STARR-seq lymphoblastoid silent region 12538 [Gene]
  • LOC129936017:ATAC-STARR-seq lymphoblastoid silent region 12539 [Gene]
  • LOC129936018:ATAC-STARR-seq lymphoblastoid silent region 12540 [Gene]
  • LOC129936020:ATAC-STARR-seq lymphoblastoid silent region 12541 [Gene]
  • LOC129936021:ATAC-STARR-seq lymphoblastoid silent region 12542 [Gene]
  • LOC129936022:ATAC-STARR-seq lymphoblastoid silent region 12543 [Gene]
  • LOC129936023:ATAC-STARR-seq lymphoblastoid silent region 12544 [Gene]
  • LOC129936024:ATAC-STARR-seq lymphoblastoid silent region 12545 [Gene]
  • LOC129936026:ATAC-STARR-seq lymphoblastoid silent region 12547 [Gene]
  • LOC129936027:ATAC-STARR-seq lymphoblastoid silent region 12548 [Gene]
  • LOC129936028:ATAC-STARR-seq lymphoblastoid silent region 12549 [Gene]
  • LOC129936029:ATAC-STARR-seq lymphoblastoid silent region 12553 [Gene]
  • LOC129936030:ATAC-STARR-seq lymphoblastoid silent region 12557 [Gene]
  • LOC129936031:ATAC-STARR-seq lymphoblastoid silent region 12558 [Gene]
  • LOC129936032:ATAC-STARR-seq lymphoblastoid silent region 12559 [Gene]
  • BOK:BCL2 family apoptosis regulator BOK [Gene - OMIM - HGNC]
  • BOK-AS1:BOK antisense RNA 1 [Gene - HGNC]
  • CAPN10-DT:CAPN10 divergent transcript [Gene - HGNC]
  • LOC126806581:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:240667929-240669128 [Gene]
  • LOC126806582:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:240985203-240986402 [Gene]
  • LOC126806584:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:242727152-242728351 [Gene]
  • LOC110599582:CEB1 minisatellite repeat instability region [Gene]
  • COPS9:COP9 signalosome subunit 9 [Gene - OMIM - HGNC]
  • D2HGDH:D-2-hydroxyglutarate dehydrogenase [Gene - OMIM - HGNC]
  • FARP2:FERM, ARH/RhoGEF and pleckstrin domain protein 2 [Gene - OMIM - HGNC]
  • GPR35:G protein-coupled receptor 35 [Gene - OMIM - HGNC]
  • GPC1-AS1:GPC1 antisense RNA 1 [Gene - HGNC]
  • HDLBP-AS1:HDLBP antisense RNA 1 [Gene - HGNC]
  • LOC129389016:MPRA-validated peak4107 silencer [Gene]
  • NDUFA10:NADH:ubiquinone oxidoreductase subunit A10 [Gene - OMIM - HGNC]
  • LOC111501790:NFE2L2 motif-containing MPRA enhancer 30 [Gene]
  • LOC132088833:Neanderthal introgressed variant-containing enhancer experimental_57691 [Gene]
  • LOC132088834:Neanderthal introgressed variant-containing enhancer experimental_57723 [Gene]
  • LOC132088835:Neanderthal introgressed variant-containing enhancer experimental_57727 [Gene]
  • LOC132088836:Neanderthal introgressed variant-containing enhancer experimental_57732 [Gene]
  • LOC132090690:Neanderthal introgressed variant-containing enhancer experimental_57796 [Gene]
  • LOC132088837:Neanderthal introgressed variant-containing enhancer experimental_58008 [Gene]
  • LOC126806583:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:241678910-241680109 [Gene]
  • PASK:PAS domain containing serine/threonine kinase [Gene - OMIM - HGNC]
  • SNED1-AS1:SNED1 antisense RNA 1 [Gene - HGNC]
  • LOC121009634:Sharpr-MPRA regulatory region 11390 [Gene]
  • LOC121009635:Sharpr-MPRA regulatory region 11586 [Gene]
  • LOC112840919:Sharpr-MPRA regulatory region 14717 [Gene]
  • LOC112840918:Sharpr-MPRA regulatory region 2002 [Gene]
  • LOC122889014:Sharpr-MPRA regulatory region 3769 [Gene]
  • LOC121725126:Sharpr-MPRA regulatory region 5168 [Gene]
  • LOC112840920:Sharpr-MPRA regulatory region 5965 [Gene]
  • THAP4:THAP domain containing 4 [Gene - OMIM - HGNC]
  • TANAR:TWIST1 associated long noncoding RNA regulated by androgen receptor [Gene - HGNC]
  • LOC110121201:VISTA enhancer hs1750 [Gene]
  • LOC110121227:VISTA enhancer hs1937 [Gene]
  • AGXT:alanine--glyoxylate aminotransferase [Gene - OMIM - HGNC]
  • ANKMY1:ankyrin repeat and MYND domain containing 1 [Gene - HGNC]
  • ANO7:anoctamin 7 [Gene - OMIM - HGNC]
  • AQP12A:aquaporin 12A [Gene - OMIM - HGNC]
  • AQP12B:aquaporin 12B [Gene - HGNC]
  • RNPEPL1:arginyl aminopeptidase like 1 [Gene - OMIM - HGNC]
  • ATG4B:autophagy related 4B cysteine peptidase [Gene - OMIM - HGNC]
  • CAPN10:calpain 10 [Gene - OMIM - HGNC]
  • CROCC2:ciliary rootlet coiled-coil, rootletin family member 2 [Gene - HGNC]
  • LOC106783501:conserved acetylation island sequence C08 enhancer [Gene]
  • DTYMK:deoxythymidylate kinase [Gene - OMIM - HGNC]
  • DUSP28:dual specificity phosphatase 28 [Gene - HGNC]
  • GAL3ST2:galactose-3-O-sulfotransferase 2 [Gene - OMIM - HGNC]
  • GPC1:glypican 1 [Gene - OMIM - HGNC]
  • HDLBP:high density lipoprotein binding protein [Gene - OMIM - HGNC]
  • ING5:inhibitor of growth family member 5 [Gene - OMIM - HGNC]
  • KIF1A:kinesin family member 1A [Gene - OMIM - HGNC]
  • MAB21L4:mab-21 like 4 [Gene - HGNC]
  • MIR149:microRNA 149 [Gene - OMIM - HGNC]
  • MIR3133:microRNA 3133 [Gene - HGNC]
  • MIR4786:microRNA 4786 [Gene - HGNC]
  • MTERF4:mitochondrial transcription termination factor 4 [Gene - OMIM - HGNC]
  • NEU4:neuraminidase 4 [Gene - OMIM - HGNC]
  • OR6B2:olfactory receptor family 6 subfamily B member 2 [Gene - HGNC]
  • OR6B3:olfactory receptor family 6 subfamily B member 3 [Gene - HGNC]
  • OTOS:otospiralin [Gene - OMIM - HGNC]
  • PRR21:proline rich 21 [Gene - HGNC]
  • PPP1R7:protein phosphatase 1 regulatory subunit 7 [Gene - OMIM - HGNC]
  • SEPTIN2:septin 2 [Gene - OMIM - HGNC]
  • STK25:serine/threonine kinase 25 [Gene - OMIM - HGNC]
  • SNED1:sushi, nidogen and EGF like domains 1 [Gene - OMIM - HGNC]
  • LOC150935:uncharacterized LOC150935 [Gene]
  • LOC285191:uncharacterized LOC285191 [Gene]
  • UICLM:up-regulated in colorectal cancer liver metastasis [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1
HGVS:
  • NC_000002.12:g.(?_239642965)_(241841232_?)del
  • NC_000002.10:g.(?_240229596)_(242432057_?)del
  • NC_000002.11:g.(?_240564659)_(242783384_?)del
Links:
dbVar: nssv3396907; dbVar: nsv995339
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
SCV000182763ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Sep 27, 2013) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humande novoyes1not 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, SCV000182763.4

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

Last Updated: May 7, 2024