GRCh38/hg38 8p22(chr8:16095273-16164235)x1 AND See cases

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

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000052753.6

Allele description [Variation Report for GRCh38/hg38 8p22(chr8:16095273-16164235)x1]

GRCh38/hg38 8p22(chr8:16095273-16164235)x1

Gene:
MSR1:macrophage scavenger receptor 1 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
8p22
Genomic location:
Preferred name:
GRCh38/hg38 8p22(chr8:16095273-16164235)x1
HGVS:
  • NC_000008.11:g.(?_16095273)_(16164235_?)del
  • NC_000008.10:g.(?_15952782)_(16021744_?)del
  • NC_000008.9:g.(?_15997153)_(16066115_?)del
Links:
dbVar: nssv580620; dbVar: nssv580621; dbVar: nsv531470
Observations:
2

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
SCV000080107GeneDxcriteria provided, single submitter
Uncertain significance
(Aug 12, 2011)
paternal, maternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing
not providedpaternalyes1not 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 GeneDx, SCV000080107.6

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

Last Updated: Aug 19, 2017