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NM_177438.3(DICER1):c.3405dup (p.Gly1136fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Aug 30, 2021)
Last evaluated:
Jul 1, 2019
Accession:
VCV000932982.3
Variation ID:
932982
Description:
1bp duplication
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NM_177438.3(DICER1):c.3405dup (p.Gly1136fs)

Allele ID
921347
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
14q32.13
Genomic location
14: 95103990-95103991 (GRCh38) GRCh38 UCSC
14: 95570327-95570328 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_492t1:c.3405dup
LRG_492:g.58432dup
NC_000014.8:g.95570329dup
... more HGVS
Protein change
G1136fs
Other names
-
Canonical SPDI
NC_000014.9:95103990:TT:TTT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1891173247
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jul 1, 2019 RCV001200959.2
Likely pathogenic 1 criteria provided, single submitter - RCV001293870.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DICER1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
3415 3436

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: research
Hereditary cancer-predisposing syndrome
Allele origin: paternal
Department of Pediatric Oncology, Hematology and Clinical Immunology,University Clinics Duesseldorf
Accession: SCV001482288.1
Submitted: (Feb 23, 2021)
Evidence details
Pathogenic
(Jul 01, 2019)
criteria provided, single submitter
Method: curation
DICER1-related pleuropulmonary blastoma cancer predisposition syndrome
Allele origin: germline
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research
Accession: SCV001371917.2
Submitted: (Aug 30, 2021)
Evidence details
Publications
PubMed (1)
Comment:
ACMG criteria met: PVS1, PM2, PP4

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Embryonal rhabdomyosarcoma in a patient with a heterozygous frameshift variant in the DICER1 gene and additional manifestations of the DICER1 syndrome. Fremerey J Familial cancer 2017 PMID: 27896549

Text-mined citations for rs1891173247...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021