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NC_000001.11:g.246924924_247245758dup AND Primary amenorrhea

Germline classification:
Likely 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:
RCV000754400.1

Allele description [Variation Report for NC_000001.11:g.246924924_247245758dup]

NC_000001.11:g.246924924_247245758dup

Genes:
  • AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]
  • LOC129932941:ATAC-STARR-seq lymphoblastoid active region 2862 [Gene]
  • LOC129932943:ATAC-STARR-seq lymphoblastoid active region 2863 [Gene]
  • LOC129932944:ATAC-STARR-seq lymphoblastoid active region 2864 [Gene]
  • LOC129932945:ATAC-STARR-seq lymphoblastoid active region 2865 [Gene]
  • LOC129932942:ATAC-STARR-seq lymphoblastoid silent region 2039 [Gene]
  • LOC129932946:ATAC-STARR-seq lymphoblastoid silent region 2040 [Gene]
  • LOC129932947:ATAC-STARR-seq lymphoblastoid silent region 2041 [Gene]
  • LOC126806087:BRD4-independent group 4 enhancer GRCh37_chr1:247367171-247368370 [Gene]
  • LOC112577567:Sharpr-MPRA regulatory region 11618 [Gene]
  • LOC112577568:Sharpr-MPRA regulatory region 11854 [Gene]
  • LOC122152358:Sharpr-MPRA regulatory region 5824 [Gene]
  • ZNF670-ZNF695:ZNF670-ZNF695 readthrough (NMD candidate) [Gene - HGNC]
  • LINC02897:long intergenic non-protein coding RNA 2897 [Gene - HGNC]
  • MIR3916:microRNA 3916 [Gene - HGNC]
  • FLJ39095:uncharacterized LOC400812 [Gene]
  • ZNF124:zinc finger protein 124 [Gene - OMIM - HGNC]
  • ZNF669:zinc finger protein 669 [Gene - HGNC]
  • ZNF670:zinc finger protein 670 [Gene - HGNC]
  • ZNF695:zinc finger protein 695 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
1q44
Genomic location:
Preferred name:
NC_000001.11:g.246924924_247245758dup
HGVS:
  • NC_000001.11:g.246924924_247245758dup
  • NC_000001.10:g.247088226_247409060dup

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
SCV000787661Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano
criteria provided, single submitter

(ACMG CNV Guidelines, 2011)		Likely 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, SCV000787661.2

#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