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GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1 AND See cases

Germline classification:
Uncertain significance (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:
RCV000137148.5

Allele description [Variation Report for GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1]

GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1

Genes:
  • AMER3:APC membrane recruitment protein 3 [Gene - HGNC]
  • ARHGEF4-AS1:ARHGEF4 antisense RNA 1 [Gene - HGNC]
  • LOC129934778:ATAC-STARR-seq lymphoblastoid active region 16530 [Gene]
  • LOC129934780:ATAC-STARR-seq lymphoblastoid active region 16531 [Gene]
  • LOC129934781:ATAC-STARR-seq lymphoblastoid active region 16532 [Gene]
  • LOC129934782:ATAC-STARR-seq lymphoblastoid active region 16533 [Gene]
  • LOC129934776:ATAC-STARR-seq lymphoblastoid silent region 11962 [Gene]
  • LOC129934777:ATAC-STARR-seq lymphoblastoid silent region 11963 [Gene]
  • LOC129934779:ATAC-STARR-seq lymphoblastoid silent region 11964 [Gene]
  • LOC108228198:LCR2q21.1 distal recombination region [Gene]
  • POTEE:POTE ankyrin domain family member E [Gene - OMIM - HGNC]
  • RAB6D:RAB6D, member RAS oncogene family [Gene - HGNC]
  • ARHGEF4:Rho guanine nucleotide exchange factor 4 [Gene - OMIM - HGNC]
  • FAM168B:family with sequence similarity 168 member B [Gene - OMIM - HGNC]
  • LINC01120:long intergenic non-protein coding RNA 1120 [Gene - HGNC]
  • PLEKHB2:pleckstrin homology domain containing B2 [Gene - OMIM - HGNC]
  • SMIM39:small integral membrane protein 39 [Gene - HGNC]
  • LOC440910:uncharacterized LOC440910 [Gene]
Variant type:
copy number loss
Cytogenetic location:
2q21.1
Genomic location:
Preferred name:
GRCh38/hg38 2q21.1(chr2:130743933-131451535)x1
HGVS:
  • NC_000002.12:g.(?_130743933)_(131451535_?)del
  • NC_000002.10:g.(?_131217976)_(131925578_?)del
  • NC_000002.11:g.(?_131501506)_(132209108_?)del
Links:
dbVar: nssv583182; dbVar: nsv534575
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
SCV000177353ISCA site 1

See additional submitters

no assertion criteria provided
Uncertain significance
(Dec 22, 2010) 		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

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, SCV000177353.4

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

Last Updated: May 7, 2024