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GRCh38/hg38 8p12(chr8:30958352-32189009)x3 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:
RCV000142168.6

Allele description [Variation Report for GRCh38/hg38 8p12(chr8:30958352-32189009)x3]

GRCh38/hg38 8p12(chr8:30958352-32189009)x3

Genes:
  • LOC130000179:ATAC-STARR-seq lymphoblastoid active region 27216 [Gene]
  • LOC130000177:ATAC-STARR-seq lymphoblastoid silent region 19091 [Gene]
  • LOC130000178:ATAC-STARR-seq lymphoblastoid silent region 19093 [Gene]
  • LOC126860343:BRD4-independent group 4 enhancer GRCh37_chr8:31165622-31166821 [Gene]
  • LOC126860342:MED14-independent group 3 enhancer GRCh37_chr8:31029565-31030764 [Gene]
  • LOC129389976:MPRA-validated peak6979 silencer [Gene]
  • LOC129389977:MPRA-validated peak6984 silencer [Gene]
  • NRG1-IT1:NRG1 intronic transcript 1 [Gene - HGNC]
  • LOC114004413:Sharpr-MPRA regulatory region 7305 [Gene]
  • WRN:WRN RecQ like helicase [Gene - OMIM - HGNC]
  • NRG1:neuregulin 1 [Gene - OMIM - HGNC]
  • PURG:purine rich element binding protein G [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8p12
Genomic location:
Preferred name:
GRCh38/hg38 8p12(chr8:30958352-32189009)x3
HGVS:
  • NC_000008.11:g.(?_30958352)_(32189009_?)dup
  • NC_000008.10:g.(?_30815868)_(32046525_?)dup
Links:
dbVar: nssv3397365; dbVar: nsv995983
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
SCV000183412ISCA site 1

See additional submitters

no assertion criteria provided
Likely benign
(Jul 18, 2014) 		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, SCV000183412.4

#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