GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1 AND See cases

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);conflicting data from submitters(1) (Last evaluated: Jul 18, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000050342.10

Allele description [Variation Report for GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1]

GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1

Genes:
  • NIPA1:NIPA magnesium transporter 1 [Gene - OMIM - HGNC]
  • NIPA2:NIPA magnesium transporter 2 [Gene - OMIM - HGNC]
  • LOC112272576:Sharpr-MPRA regulatory region 3977 [Gene]
  • LOC112272575:Sharpr-MPRA regulatory region 8478 [Gene]
  • CYFIP1:cytoplasmic FMR1 interacting protein 1 [Gene - OMIM - HGNC]
  • TUBGCP5:tubulin gamma complex associated protein 5 [Gene - OMIM - HGNC]
  • LOC283683:uncharacterized LOC283683 [Gene]
Variant type:
copy number loss
Cytogenetic location:
15q11.2
Genomic location:
Preferred name:
GRCh38/hg38 15q11.2(chr15:22655582-23066575)x1
HGVS:
  • NC_000015.10:g.(?_22655582)_(23066575_?)del
  • NC_000015.8:g.(?_20316992)_(20768955_?)del
  • NC_000015.9:g.(?_22765628)_(23217514_?)del
Links:
dbVar: nssv14082233; dbVar: nssv1495463; dbVar: nssv1495471; dbVar: nssv1495472; dbVar: nssv1495476; dbVar: nssv1495490; dbVar: nssv1495492; dbVar: nssv1603191; dbVar: nssv1603399; dbVar: nssv1603410; dbVar: nssv1604684; dbVar: nssv1608224; dbVar: nssv1608863; dbVar: nssv1609372; dbVar: nssv3395508; dbVar: nsv491772
Observations:
15

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
SCV000173126ISCA site 14

See additional submitters

no assertion criteria providedLikely pathogenicnot providedclinical testing

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

SCV000173127ISCA site 1

See additional submitters

no assertion criteria providedconflicting data from submitters
(Jul 18, 2014)
maternal, biparental, not provided, paternalclinical testing

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

Description

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000173126

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter.

SCV000173127

Copy number variation identified through the course of routine clinical cytogenomic testing in postnatal populations, with clinical assertions as classified by the original submitter. For data from the original published study, [Kaminsky, et al. 2011|/pubmed/21844811], please see [nstd101|/dbvar/studies/nstd101/].

SCV000173127

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing
not providednot providedyes6not providednot providednot providednot providedclinical testing
not providedbiparentalyes1not providednot providednot providednot providedclinical testing
not providedpaternalyes3not providednot providednot providednot providedclinical testing
humannot providedyes1not providednot providednot providednot providedclinical testing
humanmaternalyes2not providednot providednot providednot providedclinical testing
humanpaternalyes1not 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 14, SCV000173126.3

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

From ISCA site 1, SCV000173127.5

#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)
5not provided1not providednot providedclinical testing PubMed (1)
6not provided1not providednot providedclinical testing PubMed (1)
7not provided1not providednot providedclinical testing PubMed (1)
8not provided1not providednot providedclinical testing PubMed (1)
9not provided1not providednot providedclinical testing PubMed (1)
10not provided1not providednot providedclinical testing PubMed (1)
11human1not providednot providedclinical testing PubMed (1)
12human1not providednot providedclinical testing PubMed (1)
13human1not providednot providedclinical testing PubMed (1)
14human1not providednot providedclinical testing PubMed (1)

Description

Uncertain significance(13), Likely benign (1)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providedyesnot providednot providedDiscovery1not providednot providednot provided
2maternalyesnot providednot providedDiscovery1not providednot providednot provided
3not providedyesnot providednot providedDiscovery1not providednot providednot provided
4paternalyesnot providednot providedDiscovery1not providednot providednot provided
5not providedyesnot providednot providedDiscovery1not providednot providednot provided
6not providedyesnot providednot providedDiscovery1not providednot providednot provided
7biparentalyesnot providednot providedDiscovery1not providednot providednot provided
8paternalyesnot providednot providedDiscovery1not providednot providednot provided
9not providedyesnot providednot providedDiscovery1not providednot providednot provided
10paternalyesnot providednot providedDiscovery1not providednot providednot provided
11paternalyesnot providednot providedDiscovery1not providednot providednot provided
12maternalyesnot providednot providedDiscovery1not providednot providednot provided
13maternalyesnot providednot providedDiscovery1not providednot providednot provided
14not providedyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Aug 20, 2020

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