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GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3 AND See cases

Germline classification:
Conflicting interpretations of pathogenicity (3 submissions)
Last evaluated:
Sep 16, 2011
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:
RCV000050713.13

Allele description [Variation Report for GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3]

GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3

Genes:
LOC130056727:ATAC-STARR-seq lymphoblastoid silent region 6268 [Gene]
LOC129390681:MPRA-validated peak2289 silencer [Gene]
OTUD7A:OTU deubiquitinase 7A [Gene - OMIM - HGNC]
LOC125078053:Sharpr-MPRA regulatory region 11410 [Gene]
CHRNA7:cholinergic receptor nicotinic alpha 7 subunit [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
15q13.3
Genomic location:
Preferred name:
GRCh38/hg38 15q13.3(chr15:31738809-32217725)x3
HGVS:
  • NC_000015.10:g.(?_31738809)_(32217725_?)dup
  • NC_000015.8:g.(?_29818304)_(30297218_?)dup
  • NC_000015.9:g.(?_32031012)_(32509926_?)dup
Links:
dbVar: nssv13654035; dbVar: nssv3395966; dbVar: nssv3396052; dbVar: nssv575700; dbVar: nssv575792; dbVar: nssv576648; dbVar: nssv707168; dbVar: nsv529330
Observations:
7

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000175282ISCA site 4

See additional submitters

no assertion criteria provided
conflicting data from submitters
(May 27, 2010)
unknownclinical testing

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

SCV000196295ISCA site 17

See additional submitters

no assertion criteria provided
Uncertain significance
(Sep 16, 2011)
unknownclinical testing

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

SCV000196296ISCA site 8

See additional submitters

no assertion criteria provided
Uncertain significance
(Oct 19, 2010)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes7not 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 4, SCV000175282.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
3not provided1not providednot providedclinical testing PubMed (1)
4not provided1not providednot providedclinical testing PubMed (1)

Description

Uncertain significance(3), Benign (1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided
3unknownyesnot providednot providedDiscovery1not providednot providednot provided
4unknownyesnot providednot providedDiscovery1not providednot providednot provided

From ISCA site 17, SCV000196295.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided
2unknownyesnot providednot providedDiscovery1not providednot providednot provided

From ISCA site 8, SCV000196296.2

#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