GRCh38/hg38 17p13.3(chr17:2436067-2818828)x1 AND See cases

Clinical significance:Pathogenic (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:
RCV000053404.4

Allele description [Variation Report for GRCh38/hg38 17p13.3(chr17:2436067-2818828)x1]

GRCh38/hg38 17p13.3(chr17:2436067-2818828)x1

Genes:
  • RAP1GAP2:RAP1 GTPase activating protein 2 [Gene - HGNC]
  • CLUH:clustered mitochondria homolog [Gene - OMIM - HGNC]
  • METTL16:methyltransferase like 16 [Gene - HGNC]
  • MIR1253:microRNA 1253 [Gene - HGNC]
  • MIR6776:microRNA 6776 [Gene - HGNC]
  • PAFAH1B1:platelet activating factor acetylhydrolase 1b regulatory subunit 1 [Gene - OMIM - HGNC]
  • LOC105371592:uncharacterized LOC105371592 [Gene]
Variant type:
copy number loss
Cytogenetic location:
17p13.3
Genomic location:
Preferred name:
GRCh38/hg38 17p13.3(chr17:2436067-2818828)x1
HGVS:
  • NC_000017.11:g.(?_2436067)_(2818828_?)del
  • NC_000017.10:g.(?_2339361)_(2722122_?)del
  • NC_000017.9:g.(?_2286111)_(2668872_?)del
Links:
dbVar: nssv577591; dbVar: nsv532086
Observations:
1

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
SCV000080762ISCA site 13

See additional submitters

criteria provided, single submitter
Pathogenic
(Aug 12, 2011)
not providedclinical 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.

SCV000080762

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providedyes1not 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 13, SCV000080762.4

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

Last Updated: Oct 3, 2016