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NC_000006.12:g.259881_378956dup AND Primary amenorrhea

Germline classification:
Benign (1 submission)
Last evaluated:
Jun 1, 2018
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:
RCV000754430.1

Allele description [Variation Report for NC_000006.12:g.259881_378956dup]

NC_000006.12:g.259881_378956dup

Genes:
  • LOC129995536:ATAC-STARR-seq lymphoblastoid active region 23815 [Gene]
  • LOC129995537:ATAC-STARR-seq lymphoblastoid active region 23816 [Gene]
  • LOC129995538:ATAC-STARR-seq lymphoblastoid active region 23818 [Gene]
  • LOC129995539:ATAC-STARR-seq lymphoblastoid active region 23819 [Gene]
  • LOC129995540:ATAC-STARR-seq lymphoblastoid active region 23820 [Gene]
  • LOC129995541:ATAC-STARR-seq lymphoblastoid active region 23821 [Gene]
  • LOC129995542:ATAC-STARR-seq lymphoblastoid active region 23822 [Gene]
  • LOC129995545:ATAC-STARR-seq lymphoblastoid active region 23823 [Gene]
  • LOC129995546:ATAC-STARR-seq lymphoblastoid active region 23824 [Gene]
  • LOC129995547:ATAC-STARR-seq lymphoblastoid active region 23825 [Gene]
  • LOC129995548:ATAC-STARR-seq lymphoblastoid active region 23826 [Gene]
  • LOC129995549:ATAC-STARR-seq lymphoblastoid active region 23827 [Gene]
  • LOC129995550:ATAC-STARR-seq lymphoblastoid active region 23828 [Gene]
  • LOC129995551:ATAC-STARR-seq lymphoblastoid active region 23829 [Gene]
  • LOC129995552:ATAC-STARR-seq lymphoblastoid active region 23830 [Gene]
  • LOC129995553:ATAC-STARR-seq lymphoblastoid active region 23831 [Gene]
  • LOC129995554:ATAC-STARR-seq lymphoblastoid active region 23832 [Gene]
  • LOC129995556:ATAC-STARR-seq lymphoblastoid active region 23833 [Gene]
  • LOC129995557:ATAC-STARR-seq lymphoblastoid active region 23834 [Gene]
  • LOC129995558:ATAC-STARR-seq lymphoblastoid active region 23835 [Gene]
  • LOC129995559:ATAC-STARR-seq lymphoblastoid active region 23836 [Gene]
  • LOC129995560:ATAC-STARR-seq lymphoblastoid active region 23837 [Gene]
  • LOC129995561:ATAC-STARR-seq lymphoblastoid active region 23838 [Gene]
  • LOC129995562:ATAC-STARR-seq lymphoblastoid active region 23839 [Gene]
  • LOC129995543:ATAC-STARR-seq lymphoblastoid silent region 16803 [Gene]
  • LOC129995544:ATAC-STARR-seq lymphoblastoid silent region 16804 [Gene]
  • LOC129995555:ATAC-STARR-seq lymphoblastoid silent region 16805 [Gene]
  • LOC126859546:BRD4-independent group 4 enhancer GRCh37_chr6:329543-330742 [Gene]
  • LOC129389424:MPRA-validated peak5616 silencer [Gene]
  • DUSP22:dual specificity phosphatase 22 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
6p25.3
Genomic location:
Preferred name:
NC_000006.12:g.259881_378956dup
HGVS:
  • NC_000006.12:g.259881_378956dup
  • NC_000006.11:g.259881_378956dup

Condition(s)

Name:
Primary amenorrhea
Identifiers:
MedGen: C0232939; Human Phenotype Ontology: HP:0000786

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000787691Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Benign
(Jun 1, 2018) 		unknownresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyes1not providednot providednot providednot providedresearch

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 Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, SCV000787691.2

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

Last Updated: Oct 14, 2023