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GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 31, 2018
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:
RCV001007406.1

Allele description [Variation Report for GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1]

GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1

Genes:
  • NIPA1:NIPA magnesium transporter 1 [Gene - OMIM - HGNC]
  • NIPA2:NIPA magnesium transporter 2 [Gene - OMIM - HGNC]
  • POTEB:POTE ankyrin domain family member B [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: 21903815 - 23272733 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 15q11.2(chr15:21903815-23272733)x1
HGVS:
NC_000015.9:g.(?_21903815)_(23272733_?)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
SCV001167018Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington
criteria provided, single submitter

(Clinical Cytogenomics Laboratory Policy on CNV Interpretation)		Pathogenic
(Jan 31, 2018) 		unknownclinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes11not providednot providednot providedclinical testing

Citations

PubMed

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

The 15q11.2 BP1-BP2 microdeletion syndrome: a review.

Cox DM, Butler MG.

Int J Mol Sci. 2015 Feb 13;16(2):4068-82. doi: 10.3390/ijms16024068. Review.

PubMed [citation]
PMID:
25689425
PMCID:
PMC4346944
See all PubMed Citations (5)

Details of each submission

From Clinical Genomics Laboratory, Laboratory for Precision Diagnostics, University of Washington, SCV001167018.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providedFetal tissuenot provided1not provided1not provided

Last Updated: Mar 26, 2023