GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2 AND See cases

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

Review status:1 star out of maximum of 4 stars

classified by single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000052589.4

Allele description [Variation Report for ]

GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2

Genes:
RPS4Y1:ribosomal protein S4, Y-linked 1 [Gene - OMIM]
SRY:sex determining region Y [Gene - OMIM]
ZFY:zinc finger protein, Y-linked [Gene - OMIM]
Variant type:
copy number gain
Cytogenetic location:
Yp11.2
Genomic location:
Preferred name:
GRCh38/hg38 Yp11.2(chrY:2786926-2994952)x2
HGVS:
  • NC_000024.10:g.(?_2786926)_(2994952_?)dup
  • NC_000024.9:g.(?_2654967)_(2862993_?)dup
Links:
dbVar: nsv531303
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 StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000079943ISCA site 6classified by single submitterPathogenic
(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.

SCV000079943

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, SCV000079943.4

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

Last Updated: Apr 29, 2015