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GRCh38/hg38 2q24.3(chr2:166965777-167438096)x1 AND See cases

Germline classification:
Likely benign (1 submission)
Last evaluated:
Jul 18, 2014
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:
RCV000142115.6

Allele description [Variation Report for GRCh38/hg38 2q24.3(chr2:166965777-167438096)x1]

GRCh38/hg38 2q24.3(chr2:166965777-167438096)x1

Genes:
  • LOC129935048:ATAC-STARR-seq lymphoblastoid silent region 12070 [Gene]
  • LOC126806397:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr2:167996802-167998001 [Gene]
  • LOC122847309:Sharpr-MPRA regulatory region 15114 [Gene]
  • XIRP2-AS1:XIRP2 antisense RNA 1 [Gene - HGNC]
  • B3GALT1:beta-1,3-galactosyltransferase 1 [Gene - OMIM - HGNC]
  • XIRP2:xin actin binding repeat containing 2 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
GRCh38/hg38 2q24.3(chr2:166965777-167438096)x1
HGVS:
  • NC_000002.12:g.(?_166965777)_(167438096_?)del
  • NC_000002.10:g.(?_167530533)_(168002852_?)del
  • NC_000002.11:g.(?_167822287)_(168294606_?)del
Links:
dbVar: nssv3395133; dbVar: nsv995899
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
SCV000183327ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Jul 18, 2014) 		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, SCV000183327.4

#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