ClinVar Genomic variation as it relates to human health
NM_177438.3(DICER1):c.4131del (p.Pro1377_Val1378insTer)
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
No data submitted for somatic clinical impact
No data submitted for oncogenicity
Variant Details
- Identifiers
-
NM_177438.3(DICER1):c.4131del (p.Pro1377_Val1378insTer)
Variation ID: 3062040 Accession: VCV003062040.1
- Type and length
-
Deletion, 1 bp
- Location
-
Cytogenetic: 14q32.13 14: 95099855 (GRCh38) [ NCBI UCSC ] 14: 95566192 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Mar 23, 2024 Mar 23, 2024 Sep 4, 2019 - HGVS
-
Nucleotide Protein Molecular
consequenceNM_177438.3:c.4131del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_803187.1:p.Pro1377_Val1378insTer frameshift NM_001195573.1:c.4131del NP_001182502.1:p.Pro1377_Val1378insTer frameshift NM_001271282.3:c.4131del NP_001258211.1:p.Pro1377_Val1378insTer frameshift NM_001291628.2:c.4131del NP_001278557.1:p.Pro1377_Val1378insTer frameshift NM_001395677.1:c.4131del NP_001382606.1:p.Pro1377_Val1378insTer frameshift NM_001395678.1:c.4131del NP_001382607.1:p.Pro1377_Val1378insTer frameshift NM_001395679.1:c.4131del NP_001382608.1:p.Pro1377_Val1378insTer frameshift NM_001395680.1:c.4131del NP_001382609.1:p.Pro1377_Val1378insTer frameshift NM_001395681.1:c.4131delT NP_001382610.1:p.Val1378Terfs frameshift nonsense NM_001395682.1:c.4131del NP_001382611.1:p.Pro1377_Val1378insTer frameshift NM_001395683.1:c.4131del NP_001382612.1:p.Pro1377_Val1378insTer frameshift NM_001395684.1:c.4131del NP_001382613.1:p.Pro1377_Val1378insTer frameshift NM_001395685.1:c.4131del NP_001382614.1:p.Pro1377_Val1378insTer frameshift NM_001395686.1:c.3849del NP_001382615.1:p.Pro1283_Val1284insTer frameshift NM_001395687.1:c.3726del NP_001382616.1:p.Pro1242_Val1243insTer frameshift NM_001395688.1:c.3726del NP_001382617.1:p.Pro1242_Val1243insTer frameshift NM_001395689.1:c.3726del NP_001382618.1:p.Pro1242_Val1243insTer frameshift NM_001395690.1:c.3726del NP_001382619.1:p.Pro1242_Val1243insTer frameshift NM_001395691.1:c.3564del NP_001382620.1:p.Pro1188_Val1189insTer frameshift NM_001395692.1:c.4131del NP_001382621.1:p.Pro1377_Val1378insTer frameshift NM_001395693.1:c.4131del NP_001382622.1:p.Pro1377_Val1378insTer frameshift NM_001395694.1:c.4131del NP_001382623.1:p.Pro1377_Val1378insTer frameshift NM_001395695.1:c.4131del NP_001382624.1:p.Pro1377_Val1378insTer frameshift NM_001395696.1:c.3726del NP_001382625.1:p.Pro1242_Val1243insTer frameshift NM_001395697.1:c.2448del NP_001382626.1:p.Pro816_Val817insTer frameshift NM_030621.4:c.4131del NP_085124.2:p.Pro1377_Val1378insTer frameshift NR_172715.1:n.4549del non-coding transcript variant NR_172716.1:n.4733del non-coding transcript variant NR_172717.1:n.4643del non-coding transcript variant NR_172718.1:n.4566del non-coding transcript variant NR_172719.1:n.4399del non-coding transcript variant NR_172720.1:n.4476del non-coding transcript variant NC_000014.9:g.95099855del NC_000014.8:g.95566192del NG_016311.1:g.62568del LRG_492:g.62568del LRG_492t1:c.4131del LRG_492p1:p.Val1378Terfs - Protein change
- Other names
- -
- Canonical SPDI
- NC_000014.9:95099854:A:
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
-
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
-
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
-
- Links
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
---|---|---|---|---|---|---|
HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6367 | 6405 |
Conditions - Germline
Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
---|---|---|---|---|
Likely pathogenic (1) |
criteria provided, single submitter
|
Sep 4, 2019 | RCV003985150.1 |
Submissions - Germline
Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
---|---|---|---|---|---|
Likely pathogenic
(Sep 04, 2019)
|
criteria provided, single submitter
Method: clinical testing
|
DICER1-related tumor predisposition
Affected status: unknown
Allele origin:
unknown
|
Illumina Laboratory Services, Illumina
Accession: SCV004801443.1
First in ClinVar: Mar 23, 2024 Last updated: Mar 23, 2024 |
Comment:
The DICER1 c.4131delT p.(Val1378Ter) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss … (more)
The DICER1 c.4131delT p.(Val1378Ter) variant causes a shift in the protein reading frame that is predicted to result in premature termination of the protein. Loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay is expected. To our knowledge, this variant has not been reported in the peer-reviewed literature. This variant is not observed in version 2.1.1 of the Genome Aggregation Database. The variant was identified in a de novo state in the proband. Based on the available evidence, the c.4131delT p.(Val1378Ter) variant is classified as likely pathogenic for DICER1-related tumor predisposition. (less)
|
Germline Functional Evidence
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 germline classification of this variant
HelpThere are no citations for germline classification of this variant in ClinVar. If you know of citations for this variation, please consider submitting that information to ClinVar. |
Text-mined citations for this variant ...
HelpRecord last updated Mar 23, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.