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GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1 AND See cases

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 22, 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:
RCV000142531.6

Allele description [Variation Report for GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1]

GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1

Genes:
  • LOC129934999:ATAC-STARR-seq lymphoblastoid active region 16697 [Gene]
  • LOC129935000:ATAC-STARR-seq lymphoblastoid active region 16698 [Gene]
  • LOC129935001:ATAC-STARR-seq lymphoblastoid active region 16699 [Gene]
  • LOC129935002:ATAC-STARR-seq lymphoblastoid active region 16700 [Gene]
  • LOC129935003:ATAC-STARR-seq lymphoblastoid active region 16701 [Gene]
  • LOC129935006:ATAC-STARR-seq lymphoblastoid active region 16702 [Gene]
  • LOC129935008:ATAC-STARR-seq lymphoblastoid active region 16703 [Gene]
  • LOC129935012:ATAC-STARR-seq lymphoblastoid active region 16704 [Gene]
  • LOC129935013:ATAC-STARR-seq lymphoblastoid active region 16705 [Gene]
  • LOC129935014:ATAC-STARR-seq lymphoblastoid active region 16706 [Gene]
  • LOC129935015:ATAC-STARR-seq lymphoblastoid active region 16707 [Gene]
  • LOC129935016:ATAC-STARR-seq lymphoblastoid active region 16708 [Gene]
  • LOC129935019:ATAC-STARR-seq lymphoblastoid active region 16709 [Gene]
  • LOC129935020:ATAC-STARR-seq lymphoblastoid active region 16710 [Gene]
  • LOC129935022:ATAC-STARR-seq lymphoblastoid active region 16712 [Gene]
  • LOC129935023:ATAC-STARR-seq lymphoblastoid active region 16713 [Gene]
  • LOC129935027:ATAC-STARR-seq lymphoblastoid active region 16714 [Gene]
  • LOC129935004:ATAC-STARR-seq lymphoblastoid silent region 12048 [Gene]
  • LOC129935005:ATAC-STARR-seq lymphoblastoid silent region 12049 [Gene]
  • LOC129935007:ATAC-STARR-seq lymphoblastoid silent region 12050 [Gene]
  • LOC129935009:ATAC-STARR-seq lymphoblastoid silent region 12051 [Gene]
  • LOC129935010:ATAC-STARR-seq lymphoblastoid silent region 12052 [Gene]
  • LOC129935011:ATAC-STARR-seq lymphoblastoid silent region 12053 [Gene]
  • LOC129935017:ATAC-STARR-seq lymphoblastoid silent region 12054 [Gene]
  • LOC129935018:ATAC-STARR-seq lymphoblastoid silent region 12056 [Gene]
  • LOC129935021:ATAC-STARR-seq lymphoblastoid silent region 12057 [Gene]
  • LOC129935024:ATAC-STARR-seq lymphoblastoid silent region 12058 [Gene]
  • LOC129935025:ATAC-STARR-seq lymphoblastoid silent region 12059 [Gene]
  • LOC129935026:ATAC-STARR-seq lymphoblastoid silent region 12060 [Gene]
  • LOC108281133:ITGB6-RBMS1 intergenic CAGE-defined low expression enhancer [Gene]
  • LOC132088772:Neanderthal introgressed variant-containing enhancer experimental_53984 [Gene]
  • LOC132090684:Neanderthal introgressed variant-containing enhancer experimental_54032 [Gene]
  • LOC132088773:Neanderthal introgressed variant-containing enhancer experimental_54109 [Gene]
  • LOC132088774:Neanderthal introgressed variant-containing enhancer experimental_54167 [Gene]
  • LOC132088775:Neanderthal introgressed variant-containing enhancer experimental_54344 [Gene]
  • LOC132090685:Neanderthal introgressed variant-containing enhancer experimental_54373 [Gene]
  • LOC132088776:Neanderthal introgressed variant-containing enhancer experimental_54429 [Gene]
  • LOC132088777:Neanderthal introgressed variant-containing enhancer experimental_54722 [Gene]
  • LOC132088778:Neanderthal introgressed variant-containing enhancer experimental_54734 [Gene]
  • LOC132088779:Neanderthal introgressed variant-containing enhancer experimental_54744 [Gene]
  • LOC132088780:Neanderthal introgressed variant-containing enhancer experimental_54751 [Gene]
  • LOC132088781:Neanderthal introgressed variant-containing enhancer experimental_54752 [Gene]
  • LOC132088782:Neanderthal introgressed variant-containing enhancer experimental_54812 [Gene]
  • PSMD14-DT:PSMD14 divergent transcript [Gene - HGNC]
  • RBMS1:RNA binding motif single stranded interacting protein 1 [Gene - OMIM - HGNC]
  • LOC122847302:Sharpr-MPRA regulatory region 15701 [Gene]
  • LOC112806056:Sharpr-MPRA regulatory region 6450 [Gene]
  • LOC122847303:Sharpr-MPRA regulatory region 9806 [Gene]
  • TBR1:T-box brain transcription factor 1 [Gene - OMIM - HGNC]
  • TANK-AS1:TANK antisense RNA 1 [Gene - HGNC]
  • TANK:TRAF family member associated NFKB activator [Gene - OMIM - HGNC]
  • LOC114827830:VISTA enhancer hs2337 [Gene]
  • LOC110120676:VISTA enhancer hs416 [Gene]
  • ITGB6:integrin subunit beta 6 [Gene - OMIM - HGNC]
  • LINC01806:long intergenic non-protein coding RNA 1806 [Gene - HGNC]
  • LINC02478:long intergenic non-protein coding RNA 2478 [Gene - HGNC]
  • MIR4785:microRNA 4785 [Gene - HGNC]
  • PLA2R1:phospholipase A2 receptor 1 [Gene - OMIM - HGNC]
  • PSMD14:proteasome 26S subunit, non-ATPase 14 [Gene - OMIM - HGNC]
  • SLC4A10:solute carrier family 4 member 10 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q24.2
Genomic location:
Preferred name:
GRCh38/hg38 2q24.2(chr2:160005773-161921922)x1
HGVS:
  • NC_000002.12:g.(?_160005773)_(161921922_?)del
  • NC_000002.10:g.(?_160570530)_(162486678_?)del
  • NC_000002.11:g.(?_160862284)_(162778432_?)del
Links:
dbVar: nssv584455; dbVar: nsv498068
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
SCV000174581ISCA site 1

See additional submitters

no assertion criteria provided
Likely pathogenic
(Dec 22, 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 1, SCV000174581.4

#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