GRCh37/hg19 11q22.3(chr11:107554267-108004957)x3 AND Premature ovarian failure

Clinical significance:Benign (Last evaluated: Jan 7, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000225269.1

Allele description [Variation Report for GRCh37/hg19 11q22.3(chr11:107554267-108004957)x3]

GRCh37/hg19 11q22.3(chr11:107554267-108004957)x3

Genes:
RAB39A:RAB39A, member RAS oncogene family [Gene - HGNC]
ACAT1:acetyl-CoA acetyltransferase 1 [Gene - OMIM - HGNC]
CUL5:cullin 5 [Gene - OMIM - HGNC]
SLN:sarcolipin [Gene - OMIM - HGNC]
SLC35F2:solute carrier family 35 member F2 [Gene - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q22.3
Genomic location:
Chr11: 107554267 - 108004957 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 11q22.3(chr11:107554267-108004957)x3
HGVS:
NC_000011.9:g.107554267_108004957dup

Condition(s)

Name:
Premature ovarian failure (POF)
Synonyms:
Primary ovarian insufficiency; PRIMARY OVARIAN INSUFFICIENCY, FRAGILE X-ASSOCIATED; FRAGILE X PREMATURE OVARIAN FAILURE
Identifiers:
MedGen: C0085215

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000212442Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartucriteria provided, single submitter
Benign
(Jan 7, 2015)
unknownreference population

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedreference population

Citations

PubMed

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.

Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST; Working Group of the American College of Medical Genetics Laboratory Quality Assurance Committee..

Genet Med. 2011 Jul;13(7):680-5. doi: 10.1097/GIM.0b013e3182217a3a.

PubMed [citation]
PMID:
21681106

Details of each submission

From Department of Biotechnology,Institute of Molecular and Cell Biology, University of Tartu, SCV000212442.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedreference population PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Jun 17, 2019

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