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NC_000002.12:g.144520475_144520477dup AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Apr 1, 2022
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:
RCV002214160.12

Allele description [Variation Report for NC_000002.12:g.144520475_144520477dup]

NC_000002.12:g.144520475_144520477dup

Genes:
ZEB2:zinc finger E-box binding homeobox 2 [Gene - OMIM - HGNC]
ZEB2-AS1:ZEB2 antisense RNA 1 [Gene - HGNC]
Variant type:
Duplication
Cytogenetic location:
2q22.3
Genomic location:
Preferred name:
NC_000002.12:g.144520475_144520477dup
HGVS:
  • NC_000002.12:g.144520475_144520477dup
  • NG_016431.1:g.4920_4922dup
  • NC_000002.11:g.145278042_145278044dup
Links:
dbSNP: rs1303890891
NCBI 1000 Genomes Browser:
rs1303890891
Observations:
8

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002496512CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Benign
(Apr 1, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes8not providednot providednot providednot providedclinical testing

Details of each submission

From CeGaT Center for Human Genetics Tuebingen, SCV002496512.12

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided8not providednot providedclinical testingnot provided

Description

ZEB2: BS1, BS2

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided8not providednot providednot provided

Last Updated: Apr 15, 2024