GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 17, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001195070.1

Allele description [Variation Report for GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1]

GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1

Genes:
  • NIPA1:NIPA magnesium transporter 1 [Gene - OMIM - HGNC]
  • NIPA2:NIPA magnesium transporter 2 [Gene - OMIM - HGNC]
  • CYFIP1:cytoplasmic FMR1 interacting protein 1 [Gene - OMIM - HGNC]
  • GOLGA6L1:golgin A6 family like 1 [Gene - HGNC]
  • OR4M2:olfactory receptor family 4 subfamily M member 2 [Gene - HGNC]
  • OR4N4:olfactory receptor family 4 subfamily N member 4 [Gene - HGNC]
  • TUBGCP5:tubulin gamma complex associated protein 5 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
15q11.2
Genomic location:
Chr15: 22299434 - 23226254 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q11.2(chr15:22299434-23226254)x1
HGVS:
NC_000015.9:g.(?_22299434)_(23226254_?)del
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001365355Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)		Pathogenic
(Apr 17, 2019) 		paternalclinical testing

PubMed (6)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedpaternalyes11not providednot providednot providedclinical testing

Citations

PubMed

Clinical and genetic aspects of the 15q11.2 BP1-BP2 microdeletion disorder.

Butler MG.

J Intellect Disabil Res. 2017 Jun;61(6):568-579. doi: 10.1111/jir.12382. Epub 2017 Apr 7. Review.

PubMed [citation]
PMID:
28387067
PMCID:
PMC5464369

A copy number variation morbidity map of developmental delay.

Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, et al.

Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Erratum in: Nat Genet. 2014 Sep;46(9):1040.

PubMed [citation]
PMID:
21841781
PMCID:
PMC3171215
See all PubMed Citations (6)

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001365355.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (6)

Description

Low penetrance and variable expressivity

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providedAmniotic fluidnot provided1not provided1not provided

Last Updated: Mar 26, 2023