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NM_177438.3(DICER1):c.2040+54dup AND not specified

Germline classification:
Likely benign (2 submissions)
Last evaluated:
Jul 1, 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:
RCV001200948.4

Allele description [Variation Report for NM_177438.3(DICER1):c.2040+54dup]

NM_177438.3(DICER1):c.2040+54dup

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.2040+54dup
HGVS:
  • NC_000014.9:g.95113032_95113033insA
  • NC_000014.9:g.95113038dup
  • NG_016311.1:g.49390dup
  • NM_001195573.1:c.2040+54dup
  • NM_001271282.3:c.2040+54dup
  • NM_001291628.2:c.2040+54dup
  • NM_030621.4:c.2040+54dup
  • NM_177438.2:c.2040+54dup
  • NM_177438.3:c.2040+54dupMANE SELECT
  • LRG_492t1:c.2040+54dup
  • LRG_492:g.49390dup
  • NC_000014.8:g.95579375dup
  • NM_177438.2:c.2040+53_2040+54insT
  • NM_177438.2:c.2040+54dup
  • NM_177438.2:c.2040+59_2040+60insT
  • NM_177438.2:c.2040+59_2040+60insT
Links:
dbSNP: rs141723381
NCBI 1000 Genomes Browser:
rs141723381
Molecular consequence:
  • NM_001195573.1:c.2040+54dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001271282.3:c.2040+54dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001291628.2:c.2040+54dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_030621.4:c.2040+54dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_177438.3:c.2040+54dup - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001371897Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
criteria provided, single submitter

(ACMG Guidelines, 2015)
Likely benign
(Jul 1, 2019)
germline, somaticcuration

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedcuration
not providedsomaticyes4not providednot providednot providednot providedliterature only, curation

Citations

PubMed

Sequencing of DICER1 in sarcomas identifies biallelic somatic DICER1 mutations in an adult-onset embryonal rhabdomyosarcoma.

de Kock L, Rivera B, Revil T, Thorner P, Goudie C, Bouron-Dal Soglio D, Choong CS, Priest JR, van Diest PJ, Tanboon J, Wagner A, Ragoussis J, Choong PF, Foulkes WD.

Br J Cancer. 2017 Jun 6;116(12):1621-1626. doi: 10.1038/bjc.2017.147. Epub 2017 May 18.

PubMed [citation]
PMID:
28524158
PMCID:
PMC5518865

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
See all PubMed Citations (3)

Details of each submission

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research, SCV001371897.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedcuration PubMed (2)
2not provided2not providednot providedcuration PubMed (2)

Description

ACMG criteria met: BP2, BP4

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided
2somaticyesnot providednot providednot provided2not providednot providednot provided

From Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research, SCV001371899.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided2not providednot providednot provided

Flagged submissions

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001371899Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
flagged submission
Reason: This record appears to be redundant with a more recent record from the same submitter.
Notes: SCV001371899 appears to be redundant with SCV001371897.
Uncertain significance
(Jul 1, 2019)
somaticliterature only

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

Last Updated: Dec 9, 2023