GRCh38/hg38 2q31.2(chr2:178207099-178324259)x1 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:: RCV000225361.1

Allele description [Variation Report for GRCh38/hg38 2q31.2(chr2:178207099-178324259)x1]

GRCh38/hg38 2q31.2(chr2:178207099-178324259)x1

Genes:

LOC122861256:Sharpr-MPRA regulatory region 9723 [Gene]
OSBPL6:oxysterol binding protein like 6 [Gene - OMIM - HGNC]

Variant type:

copy number loss

Cytogenetic location:

2q31.2

Genomic location:

Preferred name:

GRCh38/hg38 2q31.2(chr2:178207099-178324259)x1

HGVS:

NC_000002.12:g.178207099_178324259del

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000212291	Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu	criteria provided, single submitter (ACMG CNV Guidelines, 2011)	Benign (Jan 7, 2015)	unknown	reference population	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000212291

Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu

criteria provided, single submitter

(ACMG CNV Guidelines, 2011)

Benign
(Jan 7, 2015)

unknown

reference population

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	reference 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, SCV000212291.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	reference population	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 13, 2023

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