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GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1 AND See cases

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 24, 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:
RCV000139461.5

Allele description [Variation Report for GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1]

GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1

Genes:
  • LOC129935067:ATAC-STARR-seq lymphoblastoid active region 16737 [Gene]
  • LOC129935068:ATAC-STARR-seq lymphoblastoid active region 16738 [Gene]
  • LOC129935069:ATAC-STARR-seq lymphoblastoid active region 16741 [Gene]
  • LOC129935070:ATAC-STARR-seq lymphoblastoid active region 16742 [Gene]
  • LOC129935071:ATAC-STARR-seq lymphoblastoid silent region 12082 [Gene]
  • LOC129935072:ATAC-STARR-seq lymphoblastoid silent region 12083 [Gene]
  • LOC129935073:ATAC-STARR-seq lymphoblastoid silent region 12084 [Gene]
  • LOC129935074:ATAC-STARR-seq lymphoblastoid silent region 12085 [Gene]
  • LOC129935075:ATAC-STARR-seq lymphoblastoid silent region 12086 [Gene]
  • LOC129935076:ATAC-STARR-seq lymphoblastoid silent region 12087 [Gene]
  • LOC129935077:ATAC-STARR-seq lymphoblastoid silent region 12088 [Gene]
  • ABCB11:ATP binding cassette subfamily B member 11 [Gene - OMIM - HGNC]
  • BBS5:Bardet-Biedl syndrome 5 [Gene - OMIM - HGNC]
  • LOC126806400:CDK7 strongly-dependent group 2 enhancer GRCh37_chr2:169791870-169793069 [Gene]
  • FASTKD1:FAST kinase domains 1 [Gene - OMIM - HGNC]
  • LRP2:LDL receptor related protein 2 [Gene - OMIM - HGNC]
  • LOC126806401:MED14-independent group 3 enhancer GRCh37_chr2:170809766-170810965 [Gene]
  • LOC129388939:MPRA-validated peak3915 silencer [Gene]
  • LOC129388940:MPRA-validated peak3917 silencer [Gene]
  • LOC129388941:MPRA-validated peak3919 silencer [Gene]
  • PHOSPHO2-KLHL23:PHOSPHO2-KLHL23 readthrough [Gene]
  • SPC25:SPC25 component of NDC80 kinetochore complex [Gene - OMIM - HGNC]
  • LOC122847310:Sharpr-MPRA regulatory region 15259 [Gene]
  • LOC120977014:Sharpr-MPRA regulatory region 4346 [Gene]
  • CFAP210:cilia and flagella associated protein 210 [Gene - HGNC]
  • DHRS9:dehydrogenase/reductase 9 [Gene - OMIM - HGNC]
  • G6PC2:glucose-6-phosphatase catalytic subunit 2 [Gene - OMIM - HGNC]
  • KLHL23:kelch like family member 23 [Gene - HGNC]
  • KLHL41:kelch like family member 41 [Gene - OMIM - HGNC]
  • METTL5:methyltransferase 5, N6-adenosine [Gene - OMIM - HGNC]
  • PPIG:peptidylprolyl isomerase G [Gene - OMIM - HGNC]
  • PHOSPHO2:phosphatase, orphan 2 [Gene - HGNC]
  • SSB:small RNA binding exonuclease protection factor La [Gene - OMIM - HGNC]
  • SNORD3K:small nucleolar RNA, C/D box 3K [Gene - HGNC]
  • UBR3:ubiquitin protein ligase E3 component n-recognin 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q24.3-31.1
Genomic location:
Preferred name:
GRCh38/hg38 2q24.3-31.1(chr2:168884350-169959279)x1
HGVS:
  • NC_000002.12:g.(?_168884350)_(169959279_?)del
  • NC_000002.10:g.(?_169449106)_(170524035_?)del
  • NC_000002.11:g.(?_169740860)_(170815789_?)del
Links:
dbVar: nssv1604132; dbVar: nsv916925
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
SCV000180018ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Oct 24, 2012) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not 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, SCV000180018.4

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

Last Updated: May 7, 2024