NM_177438.3(DICER1):c.1355dup (p.Tyr452Ter) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 12, 2017
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:: RCV000851437.5

Allele description [Variation Report for NM_177438.3(DICER1):c.1355dup (p.Tyr452Ter)]

NM_177438.3(DICER1):c.1355dup (p.Tyr452Ter)

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.1355dup (p.Tyr452Ter)

HGVS:

NC_000014.9:g.95124217dup
NG_016311.1:g.38206dup
NM_001195573.1:c.1355dup
NM_001271282.3:c.1355dup
NM_001291628.2:c.1355dup
NM_030621.4:c.1355dup
NM_177438.3:c.1355dupMANE SELECT
NP_001182502.1:p.Tyr452Ter
NP_001258211.1:p.Tyr452Ter
NP_001278557.1:p.Tyr452Ter
NP_085124.2:p.Tyr452Ter
NP_803187.1:p.Tyr452Ter
LRG_492:g.38206dup
NC_000014.8:g.95590554dup
NM_030621.4:c.1355dupA

Protein change:

Y452*

Links:

dbSNP: rs1595438021

NCBI 1000 Genomes Browser:

rs1595438021

Molecular consequence:

NM_001195573.1:c.1355dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001271282.3:c.1355dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001291628.2:c.1355dup - nonsense - [Sequence Ontology: SO:0001587]
NM_030621.4:c.1355dup - nonsense - [Sequence Ontology: SO:0001587]
NM_177438.3:c.1355dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000993719	PreventionGenetics, part of Exact Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Feb 12, 2017)	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

SCV000993719

PreventionGenetics, part of Exact Sciences

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Feb 12, 2017)

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, SCV000993719.1

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

#	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: Mar 10, 2024

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