NM_177438.3(DICER1):c.4178_4180dup (p.Asn1393dup) AND DICER1-related disorder

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 30, 2023
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:: RCV003409360.4

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)

Name:: DICER1-related disorder
Synonyms:: DICER1-related condition
Identifiers:

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Mus musculus BCL2/adenovirus E1B interacting protein 2, mRNA (cDNA clone MGC:138...
Mus musculus BCL2/adenovirus E1B interacting protein 2, mRNA (cDNA clone MGC:13852 IMAGE:4037627), complete cds
gi|15215115|gb|BC012670.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004113715	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Jan 30, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004113715

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Jan 30, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004113715.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

The DICER1 c.4178_4180dupACA variant is predicted to result in an in-frame duplication (p.Asn1393dup). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant has been classified as uncertain by an expert panel in ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/variation/242100/). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 13, 2024

ClinVar

Relating variation to medicine