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NM_177438.3(DICER1):c.4178_4180dup (p.Asn1393dup) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 20, 2024
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:
RCV003320620.2

Allele description [Variation Report for NM_177438.3(DICER1):c.4178_4180dup (p.Asn1393dup)]

NM_177438.3(DICER1):c.4178_4180dup (p.Asn1393dup)

Gene:
DICER1:dicer 1, ribonuclease III [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_177438.3(DICER1):c.4178_4180dup (p.Asn1393dup)
Other names:
NM_030621.4(DICER1):c.4178_4180dup; p.Asn1393dup
HGVS:
  • NC_000014.9:g.95099808_95099810dup
  • NG_016311.1:g.62615_62617dup
  • NM_001195573.1:c.4178_4180dup
  • NM_001271282.3:c.4178_4180dup
  • NM_001291628.2:c.4178_4180dup
  • NM_030621.4:c.4178_4180dup
  • NM_177438.3:c.4178_4180dupMANE SELECT
  • NP_001182502.1:p.Asn1393dup
  • NP_001258211.1:p.Asn1393dup
  • NP_001278557.1:p.Asn1393dup
  • NP_085124.2:p.Asn1393dup
  • NP_803187.1:p.Asn1393dup
  • NP_803187.1:p.Asn1393dup
  • LRG_492t1:c.4178_4180dup
  • LRG_492:g.62615_62617dup
  • LRG_492p1:p.Asn1393dup
  • NC_000014.8:g.95566142_95566143insTGT
  • NC_000014.8:g.95566145_95566147dup
  • NM_030621.4:c.4178_4180dupACA
  • NM_177438.2:c.4178_4180dup
  • NM_177438.2:c.4178_4180dupACA
Links:
dbSNP: rs878855263
NCBI 1000 Genomes Browser:
rs878855263
Molecular consequence:
  • NM_001195573.1:c.4178_4180dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001271282.3:c.4178_4180dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001291628.2:c.4178_4180dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_030621.4:c.4178_4180dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_177438.3:c.4178_4180dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004025710GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 20, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV004025710.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Not observed at significant frequency in large population cohorts (gnomAD); In-frame duplication of 1 amino acid in a non-repeat region; Observed in an individual with follicular thyroid cancer (PMID: 33630087); This variant is associated with the following publications: (PMID: 38084291, 33630087)

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

Last Updated: Oct 13, 2024