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NC_000005.10:g.160592205_161364688dup AND Primary amenorrhea

Germline classification:
Uncertain significance (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:
RCV000754419.1

Allele description [Variation Report for NC_000005.10:g.160592205_161364688dup]

NC_000005.10:g.160592205_161364688dup

Genes:
  • LOC129995193:ATAC-STARR-seq lymphoblastoid active region 23572 [Gene]
  • LOC129995194:ATAC-STARR-seq lymphoblastoid active region 23573 [Gene]
  • LOC129995195:ATAC-STARR-seq lymphoblastoid active region 23574 [Gene]
  • ATP10B:ATPase phospholipid transporting 10B (putative) [Gene - OMIM - HGNC]
  • LOC126807574:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:160033047-160034246 [Gene]
  • LOC126807575:MED14-independent group 3 enhancer GRCh37_chr5:160365148-160366347 [Gene]
  • GABRB2:gamma-aminobutyric acid type A receptor subunit beta2 [Gene - OMIM - HGNC]
  • LINC02159:long intergenic non-protein coding RNA 2159 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q34
Genomic location:
Preferred name:
NC_000005.10:g.160592205_161364688dup
HGVS:
  • NC_000005.10:g.160592205_161364688dup
  • NC_000005.9:g.160019212_160791695dup

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
SCV000787680Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Uncertain significance
(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, SCV000787680.2

#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