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GRCh38/hg38 11q11(chr11:55354862-55683570)x0 AND Premature ovarian failure

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 7, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000225347.1

Allele description [Variation Report for GRCh38/hg38 11q11(chr11:55354862-55683570)x0]

GRCh38/hg38 11q11(chr11:55354862-55683570)x0

Genes:
  • OR4A15:olfactory receptor family 4 subfamily A member 15 [Gene - HGNC]
  • OR4C11:olfactory receptor family 4 subfamily C member 11 [Gene - HGNC]
  • OR4C15:olfactory receptor family 4 subfamily C member 15 [Gene - HGNC]
  • OR4C16:olfactory receptor family 4 subfamily C member 16 [Gene - HGNC]
  • OR4C6:olfactory receptor family 4 subfamily C member 6 [Gene - HGNC]
  • OR4P4:olfactory receptor family 4 subfamily P member 4 [Gene - HGNC]
  • OR4S2:olfactory receptor family 4 subfamily S member 2 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
11q11
Genomic location:
Preferred name:
GRCh38/hg38 11q11(chr11:55354862-55683570)x0
HGVS:
NC_000011.10:g.55354862_55683570del

Condition(s)

Name:
Premature ovarian failure (POF)
Synonyms:
Primary ovarian insufficiency; Primary ovarian failure
Identifiers:
MONDO: MONDO:0005387; MedGen: C0085215

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000212337Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Benign
(Jan 7, 2015) 		unknownreference population

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes4not 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, SCV000212337.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedreference population PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided4not providednot providednot provided

Last Updated: Aug 13, 2023