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GRCh38/hg38 2q37.3(chr2:241975583-242092368)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:
RCV000225148.1

Allele description [Variation Report for GRCh38/hg38 2q37.3(chr2:241975583-242092368)x0]

GRCh38/hg38 2q37.3(chr2:241975583-242092368)x0

Genes:
  • LOC132205954:Neanderthal introgressed variant-containing enhancers experimental_58196 and experimental_58198 [Gene]
  • LOC122889016:Sharpr-MPRA regulatory region 9157 [Gene]
  • LINC01237:long intergenic non-protein coding RNA 1237 [Gene - HGNC]
  • LINC01238:long intergenic non-protein coding RNA 1238 [Gene - HGNC]
  • LINC01880:long intergenic non-protein coding RNA 1880 [Gene - HGNC]
  • LINC01881:long intergenic non-protein coding RNA 1881 [Gene - HGNC]
  • LINC03100:long intergenic non-protein coding RNA 3100 [Gene - HGNC]
  • LOC285097:uncharacterized FLJ38379 [Gene]
Variant type:
copy number loss
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
GRCh38/hg38 2q37.3(chr2:241975583-242092368)x0
HGVS:
NC_000002.12:g.241975583_242092368del

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
SCV000212292Department 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 providedunknownyes7not 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, SCV000212292.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided7not providednot providedreference population PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot provided7not providednot providednot provided

Last Updated: Oct 14, 2023