ClinVar Genomic variation as it relates to human health
NM_000368.5(TSC1):c.2127del (p.Arg709fs)
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_000368.5(TSC1):c.2127del (p.Arg709fs)
Variation ID: 2507395 Accession: VCV002507395.1
- Type and length
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Deletion, 1 bp
- Location
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Cytogenetic: 9q34.13 9: 132903732 (GRCh38) [ NCBI UCSC ] 9: 135779119 (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 Jul 8, 2023 Jul 8, 2023 - HGVS
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Nucleotide Protein Molecular
consequenceNM_000368.5:c.2127del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000359.1:p.Arg709fs frameshift NM_000368.5:c.2127delG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
frameshift NM_001162426.2:c.2124del NP_001155898.1:p.Arg708fs frameshift NM_001162427.2:c.1974del NP_001155899.1:p.Arg658fs frameshift NM_001362177.2:c.1764del NP_001349106.1:p.Arg588fs frameshift NM_001406592.1:c.2127del NP_001393521.1:p.Arg709fs frameshift NM_001406593.1:c.2127del NP_001393522.1:p.Arg709fs frameshift NM_001406594.1:c.2127del NP_001393523.1:p.Arg709fs frameshift NM_001406595.1:c.2127del NP_001393524.1:p.Arg709fs frameshift NM_001406596.1:c.2127del NP_001393525.1:p.Arg709fs frameshift NM_001406597.1:c.2124del NP_001393526.1:p.Arg708fs frameshift NM_001406598.1:c.2124del NP_001393527.1:p.Arg708fs frameshift NM_001406599.1:c.2124del NP_001393528.1:p.Arg708fs frameshift NM_001406600.1:c.2124del NP_001393529.1:p.Arg708fs frameshift NM_001406601.1:c.2112del NP_001393530.1:p.Arg704fs frameshift NM_001406602.1:c.2112del NP_001393531.1:p.Arg704fs frameshift NM_001406603.1:c.2109del NP_001393532.1:p.Arg703fs frameshift NM_001406604.1:c.2109del NP_001393533.1:p.Arg703fs frameshift NM_001406605.1:c.2127del NP_001393534.1:p.Arg709fs frameshift NM_001406606.1:c.2127del NP_001393535.1:p.Arg709fs frameshift NM_001406607.1:c.2127del NP_001393536.1:p.Arg709fs frameshift NM_001406608.1:c.2124del NP_001393537.1:p.Arg708fs frameshift NM_001406609.1:c.2124del NP_001393538.1:p.Arg708fs frameshift NM_001406610.1:c.1974del NP_001393539.1:p.Arg658fs frameshift NM_001406611.1:c.1971del NP_001393540.1:p.Arg657fs frameshift NM_001406612.1:c.1971del NP_001393541.1:p.Arg657fs frameshift NM_001406613.1:c.1971del NP_001393542.1:p.Arg657fs frameshift NM_001406614.1:c.1764del NP_001393543.1:p.Arg588fs frameshift NM_001406615.1:c.1764del NP_001393544.1:p.Arg588fs frameshift NM_001406616.1:c.1764del NP_001393545.1:p.Arg588fs frameshift NM_001406617.1:c.1764del NP_001393546.1:p.Arg588fs frameshift NM_001406618.1:c.1764del NP_001393547.1:p.Arg588fs frameshift NM_001406619.1:c.1764del NP_001393548.1:p.Arg588fs frameshift NM_001406620.1:c.1761del NP_001393549.1:p.Arg587fs frameshift NM_001406621.1:c.1761del NP_001393550.1:p.Arg587fs frameshift NM_001406622.1:c.1761del NP_001393551.1:p.Arg587fs frameshift NM_001406623.1:c.1761del NP_001393552.1:p.Arg587fs frameshift NM_001406624.1:c.1764del NP_001393553.1:p.Arg588fs frameshift NM_001406625.1:c.1761del NP_001393554.1:p.Arg587fs frameshift NM_001406626.1:c.1176del NP_001393555.1:p.Arg392fs frameshift NM_001406627.1:c.1173del NP_001393556.1:p.Arg391fs frameshift NM_001406628.1:c.1173del NP_001393557.1:p.Arg391fs frameshift NM_001406629.1:c.1074del NP_001393558.1:p.Arg358fs frameshift NM_001406630.1:c.1074del NP_001393559.1:p.Arg358fs frameshift NR_176215.1:n.2344del non-coding transcript variant NR_176216.1:n.2211del non-coding transcript variant NR_176217.1:n.2341del non-coding transcript variant NR_176218.1:n.2344del non-coding transcript variant NC_000009.12:g.132903733del NC_000009.11:g.135779120del NG_012386.1:g.45902del NG_117954.1:g.280del LRG_486:g.45902del LRG_486t1:c.2126del LRG_486p1:p.Arg709Serfs - Protein change
- R358fs, R391fs, R392fs, R587fs, R588fs, R657fs, R658fs, R703fs, R704fs, R708fs, R709fs
- Other names
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- Canonical SPDI
- NC_000009.12:132903731:CC:C
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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
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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
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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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TSC1 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
4736 | 4785 |
Conditions - Germline
Condition
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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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Pathogenic (1) |
criteria provided, single submitter
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- | RCV003239283.1 |
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
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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
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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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Pathogenic
(-)
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criteria provided, single submitter
Method: research
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Tuberous sclerosis 1
Affected status: yes
Allele origin:
de novo
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Department of Medical Genetics, College of Basic Medicine, Army Medical University
Accession: SCV003935195.1
First in ClinVar: Jul 08, 2023 Last updated: Jul 08, 2023 |
Age: 30-39 years
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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 Jul 08, 2023
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.