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NM_177438.3(DICER1):c.4206+11del AND not provided

Germline classification:
Benign (3 submissions)
Last evaluated:
Aug 30, 2019
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:
RCV001529290.7

Allele description [Variation Report for NM_177438.3(DICER1):c.4206+11del]

NM_177438.3(DICER1):c.4206+11del

Gene:
DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_177438.3(DICER1):c.4206+11del
HGVS:
  • NC_000014.9:g.95099769del
  • NG_016311.1:g.62654del
  • NM_001195573.1:c.4206+11del
  • NM_001271282.3:c.4206+11del
  • NM_001291628.2:c.4206+11del
  • NM_030621.4:c.4206+11del
  • NM_177438.3:c.4206+11delMANE SELECT
  • LRG_492t1:c.4206+11del
  • LRG_492:g.62654del
  • NC_000014.8:g.95566106del
  • NC_000014.8:g.95566106delC
  • NM_177438.2:c.4206+11del
  • NM_177438.2:c.4206+11delG
  • NM_177438.3:c.4206+11delGMANE SELECT
Links:
dbSNP: rs58202892
NCBI 1000 Genomes Browser:
rs58202892
Molecular consequence:
  • NM_001195573.1:c.4206+11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271282.3:c.4206+11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291628.2:c.4206+11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_030621.4:c.4206+11del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_177438.3:c.4206+11del - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001742485Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV001809751Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus
no assertion criteria provided
Likely benigngermlineclinical testing

SCV001891212GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Aug 30, 2019)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001742485.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Genome Diagnostics Laboratory, Amsterdam University Medical Center - VKGL Data-share Consensus, SCV001809751.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From GeneDx, SCV001891212.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024