ClinVar Genomic variation as it relates to human health
NM_000548.5(TSC2):c.5418_5419insTG (p.Val1807fs)
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_000548.5(TSC2):c.5418_5419insTG (p.Val1807fs)
Variation ID: 3070018 Accession: VCV003070018.1
- Type and length
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Insertion, 2 bp
- Location
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Cytogenetic: 16p13.3 16: 2088604-2088605 (GRCh38) [ NCBI UCSC ] 16: 2138605-2138606 (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 Apr 20, 2024 Apr 20, 2024 Mar 28, 2023 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000548.5:c.5418_5419insTG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000539.2:p.Val1807fs frameshift NM_001077183.3:c.5217_5218insTG NP_001070651.1:p.Val1740fs frameshift NM_001114382.3:c.5349_5350insTG NP_001107854.1:p.Val1784fs frameshift NM_001318827.2:c.5109_5110insTG NP_001305756.1:p.Val1704fs frameshift NM_001318829.2:c.5073_5074insTG NP_001305758.1:p.Val1692fs frameshift NM_001318831.2:c.4686_4687insTG NP_001305760.1:p.Val1563fs frameshift NM_001318832.2:c.5250_5251insTG NP_001305761.1:p.Val1751fs frameshift NM_001363528.2:c.5220_5221insTG NP_001350457.1:p.Val1741fs frameshift NM_001370404.1:c.5286_5287insTG NP_001357333.1:p.Val1763fs frameshift NM_001370405.1:c.5277_5278insTG NP_001357334.1:p.Val1760fs frameshift NM_001406663.1:c.5415_5416insTG NP_001393592.1:p.Val1806fs frameshift NM_001406664.1:c.5346_5347insTG NP_001393593.1:p.Val1783fs frameshift NM_001406665.1:c.5340_5341insTG NP_001393594.1:p.Val1781fs frameshift NM_001406667.1:c.5310_5311insTG NP_001393596.1:p.Val1771fs frameshift NM_001406668.1:c.5307_5308insTG NP_001393597.1:p.Val1770fs frameshift NM_001406670.1:c.5238_5239insTG NP_001393599.1:p.Val1747fs frameshift NM_001406671.1:c.5208_5209insTG NP_001393600.1:p.Val1737fs frameshift NM_001406673.1:c.5205_5206insTG NP_001393602.1:p.Val1736fs frameshift NM_001406675.1:c.5202_5203insTG NP_001393604.1:p.Val1735fs frameshift NM_001406676.1:c.5199_5200insTG NP_001393605.1:p.Val1734fs frameshift NM_001406677.1:c.5160_5161insTG NP_001393606.1:p.Val1721fs frameshift NM_001406678.1:c.5106_5107insTG NP_001393607.1:p.Val1703fs frameshift NM_001406679.1:c.5070_5071insTG NP_001393608.1:p.Val1691fs frameshift NM_001406680.1:c.4818_4819insTG NP_001393609.1:p.Val1607fs frameshift NM_001406681.1:c.4758_4759insTG NP_001393610.1:p.Val1587fs frameshift NM_001406682.1:c.4749_4750insTG NP_001393611.1:p.Val1584fs frameshift NM_001406683.1:c.4749_4750insTG NP_001393612.1:p.Val1584fs frameshift NM_001406684.1:c.4746_4747insTG NP_001393613.1:p.Val1583fs frameshift NM_001406685.1:c.4620_4621insTG NP_001393614.1:p.Val1541fs frameshift NM_001406686.1:c.4620_4621insTG NP_001393615.1:p.Val1541fs frameshift NM_001406687.1:c.4617_4618insTG NP_001393616.1:p.Val1540fs frameshift NM_001406688.1:c.4617_4618insTG NP_001393617.1:p.Val1540fs frameshift NM_001406689.1:c.4005_4006insTG NP_001393618.1:p.Val1336fs frameshift NM_001406690.1:c.3945_3946insTG NP_001393619.1:p.Val1316fs frameshift NM_001406691.1:c.3942_3943insTG NP_001393620.1:p.Val1315fs frameshift NM_001406692.1:c.3876_3877insTG NP_001393621.1:p.Val1293fs frameshift NM_001406693.1:c.3876_3877insTG NP_001393622.1:p.Val1293fs frameshift NM_001406694.1:c.3876_3877insTG NP_001393623.1:p.Val1293fs frameshift NM_001406695.1:c.3873_3874insTG NP_001393624.1:p.Val1292fs frameshift NM_001406696.1:c.3873_3874insTG NP_001393625.1:p.Val1292fs frameshift NM_001406697.1:c.3873_3874insTG NP_001393626.1:p.Val1292fs frameshift NM_001406698.1:c.3615_3616insTG NP_001393627.1:p.Val1206fs frameshift NM_021055.3:c.5289_5290insTG NP_066399.2:p.Val1764fs frameshift NR_176225.1:n.5370_5371insTG non-coding transcript variant NR_176226.1:n.5618_5619insTG non-coding transcript variant NR_176227.1:n.5546_5547insTG non-coding transcript variant NR_176228.1:n.5367_5368insTG non-coding transcript variant NR_176229.1:n.5292_5293insTG non-coding transcript variant NC_000016.10:g.2088604_2088605insTG NC_000016.9:g.2138605_2138606insTG NG_005895.1:g.44299_44300insTG NG_008617.1:g.54616_54617insCA LRG_487:g.44299_44300insTG LRG_487t1:c.5418_5419insTG LRG_487p1:p.Val1807Trpfs - Protein change
- V1206fs, V1292fs, V1293fs, V1315fs, V1316fs, V1336fs, V1540fs, V1541fs, V1563fs, V1583fs, V1584fs, V1587fs, V1607fs, V1691fs, V1692fs, V1703fs, V1704fs, V1721fs, V1734fs, V1735fs, V1736fs, V1737fs, V1740fs, V1741fs, V1747fs, V1751fs, V1760fs, V1763fs, V1764fs, V1770fs, V1771fs, V1781fs, V1783fs, V1784fs, V1806fs, V1807fs
- Other names
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- Canonical SPDI
- NC_000016.10:2088604::TG
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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
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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| TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10752 | 10951 | |
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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| Uncertain significance (1) |
criteria provided, single submitter
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Mar 28, 2023 | RCV004010050.2 |
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
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
(Mar 28, 2023)
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criteria provided, single submitter
Method: clinical testing
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Tuberous sclerosis syndrome
(Autosomal dominant inheritance)
Affected status: unknown
Allele origin:
germline
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All of Us Research Program, National Institutes of Health
Accession: SCV004821090.1
First in ClinVar: Apr 20, 2024 Last updated: Apr 20, 2024
Comment:
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of … (more)
This study involves interpretation of variants in research participants for the purpose of population health screening. Participant phenotype was not available at the time of variant classification. Additional details can be found in publication PMID: 35346344, PMCID: PMC8962531 (less)
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Number of individuals with the variant: 1
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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
Help| There 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 Jun 02, 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.