GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1 AND See cases

Clinical significance:Pathogenic (Last evaluated: Aug 12, 2011)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000052517.5

Allele description [Variation Report for GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1]

GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1

Genes:
  • MIR484:microRNA 484 [Gene]
  • MIR6506:microRNA 6506 [Gene]
  • ABCC1:ATP-binding cassette, sub-family C (CFTR/MRP), member 1 [Gene - OMIM]
  • NOMO3:NODAL modulator 3 [Gene - OMIM]
  • FOPNL:FGFR1OP N-terminal like [Gene]
  • NDE1:nudE neurodevelopment protein 1 [Gene - OMIM]
  • MYH11:myosin, heavy chain 11, smooth muscle [Gene - OMIM]
  • ABCC6:ATP-binding cassette, sub-family C (CFTR/MRP), member 6 [Gene - OMIM]
  • C16orf45:chromosome 16 open reading frame 45 [Gene]
Variant type:
copy number loss
Cytogenetic location:
16p13.11
Genomic location:
Preferred name:
GRCh38/hg38 16p13.11(chr16:15434653-16281234)x1
HGVS:
  • NC_000016.10:g.(?_15434653)_(16281234_?)del
  • NC_000016.8:g.(?_15436011)_(16282592_?)del
  • NC_000016.9:g.(?_15528510)_(16375091_?)del
Links:
dbVar: nsv531223
Observations:
1

Condition(s)

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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000079871ISCA site 6

See additional submitters

no assertion criteria providedPathogenic
(Aug 12, 2011)
de novoclinical 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. Clinical assertions have been curated as described in Kaminsky et al. 2011.

SCV000079871

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From ISCA site 6, SCV000079871.5

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

Last Updated: Jun 27, 2015