ClinVar Genomic variation as it relates to human health
NM_177438.3(DICER1):c.242T>C (p.Leu81Pro)
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
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NM_177438.3(DICER1):c.242T>C (p.Leu81Pro)
Variation ID: 2681877 Accession: VCV002681877.1
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 14q32.13 14: 95132580 (GRCh38) [ NCBI UCSC ] 14: 95598917 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
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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 Jan 6, 2024 Jan 6, 2024 Jun 21, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_177438.3:c.242T>C MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_803187.1:p.Leu81Pro missense NM_001195573.1:c.242T>C NP_001182502.1:p.Leu81Pro missense NM_001271282.3:c.242T>C NP_001258211.1:p.Leu81Pro missense NM_001291628.2:c.242T>C NP_001278557.1:p.Leu81Pro missense NM_001395677.1:c.242T>C NP_001382606.1:p.Leu81Pro missense NM_001395678.1:c.242T>C NP_001382607.1:p.Leu81Pro missense NM_001395679.1:c.242T>C NP_001382608.1:p.Leu81Pro missense NM_001395680.1:c.242T>C NP_001382609.1:p.Leu81Pro missense NM_001395681.1:c.242T>C NP_001382610.1:p.Leu81Pro missense NM_001395682.1:c.242T>C NP_001382611.1:p.Leu81Pro missense NM_001395683.1:c.242T>C NP_001382612.1:p.Leu81Pro missense NM_001395684.1:c.242T>C NP_001382613.1:p.Leu81Pro missense NM_001395686.1:c.-33T>C 5 prime UTR NM_001395687.1:c.-33T>C 5 prime UTR NM_001395688.1:c.-33T>C 5 prime UTR NM_001395689.1:c.-33T>C 5 prime UTR NM_001395690.1:c.-33T>C 5 prime UTR NM_001395691.1:c.-217T>C 5 prime UTR NM_001395692.1:c.242T>C NP_001382621.1:p.Leu81Pro missense NM_001395693.1:c.242T>C NP_001382622.1:p.Leu81Pro missense NM_001395694.1:c.242T>C NP_001382623.1:p.Leu81Pro missense NM_001395695.1:c.242T>C NP_001382624.1:p.Leu81Pro missense NM_001395696.1:c.-33T>C 5 prime UTR NM_001395697.1:c.-1327T>C 5 prime UTR NM_001395698.1:c.-33T>C 5 prime UTR NM_001395699.1:c.242T>C NP_001382628.1:p.Leu81Pro missense NM_001395700.1:c.242T>C NP_001382629.1:p.Leu81Pro missense NM_030621.4:c.242T>C NP_085124.2:p.Leu81Pro missense NR_172715.1:n.587T>C non-coding transcript variant NR_172716.1:n.587T>C non-coding transcript variant NR_172717.1:n.754T>C non-coding transcript variant NR_172718.1:n.754T>C non-coding transcript variant NR_172719.1:n.587T>C non-coding transcript variant NR_172720.1:n.587T>C non-coding transcript variant NC_000014.9:g.95132580A>G NC_000014.8:g.95598917A>G NG_016311.1:g.29843T>C LRG_492:g.29843T>C LRG_492t1:c.242T>C LRG_492p1:p.Leu81Pro - Protein change
- L81P
- Other names
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- Canonical SPDI
- NC_000014.9:95132579:A:G
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Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
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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.
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Allele frequency
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The frequency of the allele represented by this VCV record.
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- 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 | ||
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HI score
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The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
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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
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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. |
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DICER1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
6475 | 6513 |
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
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The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
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The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
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Uncertain significance (1) |
criteria provided, single submitter
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Jun 21, 2023 | RCV003477169.1 |
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
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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. |
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Uncertain significance
(Jun 21, 2023)
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criteria provided, single submitter
Method: clinical testing
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not provided
Affected status: unknown
Allele origin:
unknown
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Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV004221794.1
First in ClinVar: Jan 06, 2024 Last updated: Jan 06, 2024 |
Comment:
To the best of our knowledge, this variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic … (more)
To the best of our knowledge, this variant has not been reported in the published literature. It also has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant. (less)
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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 Oct 08, 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.