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GRCh37/hg19 8q24.21(chr8:130866512-131107094)x3 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:
RCV000225313.1

Allele description [Variation Report for GRCh37/hg19 8q24.21(chr8:130866512-131107094)x3]

GRCh37/hg19 8q24.21(chr8:130866512-131107094)x3

Genes:
ASAP1:ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 [Gene - OMIM - HGNC]
CYRIB:CYFIP related Rac1 interactor B [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
8q24.21
Genomic location:
Chr8: 130866512 - 131107094 (on Assembly GRCh37)
Preferred name:
GRCh37/hg19 8q24.21(chr8:130866512-131107094)x3
HGVS:

    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
    SCV000212431Department 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 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, SCV000212431.1

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

    Last Updated: Aug 13, 2023