The p.L1796V variant (also known as c.5386C>G), located in coding exon 41 of the TSC2 gene, results from a C to G substitution at nucleotide position 5386. The leucine at codon 1796 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
ClinVar Genomic variation as it relates to human health
NM_000548.5(TSC2):c.5386C>G (p.Leu1796Val)
Germline
Classification
Help
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.
(1)
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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.
Uncertain significance
1
criteria provided, single submitter
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
- Identifiers
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NM_000548.5(TSC2):c.5386C>G (p.Leu1796Val)
Variation ID: 2454683 Accession: VCV002454683.2
- Type and length
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single nucleotide variant, 1 bp
- Location
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Cytogenetic: 16p13.3 16: 2088572 (GRCh38) [ NCBI UCSC ] 16: 2138573 (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 15, 2023 May 1, 2024 Nov 27, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000548.5:c.5386C>G MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000539.2:p.Leu1796Val missense NM_001077183.3:c.5185C>G NP_001070651.1:p.Leu1729Val missense NM_001114382.3:c.5317C>G NP_001107854.1:p.Leu1773Val missense NM_001318827.2:c.5077C>G NP_001305756.1:p.Leu1693Val missense NM_001318829.2:c.5041C>G NP_001305758.1:p.Leu1681Val missense NM_001318831.2:c.4654C>G NP_001305760.1:p.Leu1552Val missense NM_001318832.2:c.5218C>G NP_001305761.1:p.Leu1740Val missense NM_001363528.2:c.5188C>G NP_001350457.1:p.Leu1730Val missense NM_001370404.1:c.5254C>G NP_001357333.1:p.Leu1752Val missense NM_001370405.1:c.5245C>G NP_001357334.1:p.Leu1749Val missense NM_001406663.1:c.5383C>G NP_001393592.1:p.Leu1795Val missense NM_001406664.1:c.5314C>G NP_001393593.1:p.Leu1772Val missense NM_001406665.1:c.5308C>G NP_001393594.1:p.Leu1770Val missense NM_001406667.1:c.5278C>G NP_001393596.1:p.Leu1760Val missense NM_001406668.1:c.5275C>G NP_001393597.1:p.Leu1759Val missense NM_001406670.1:c.5206C>G NP_001393599.1:p.Leu1736Val missense NM_001406671.1:c.5176C>G NP_001393600.1:p.Leu1726Val missense NM_001406673.1:c.5173C>G NP_001393602.1:p.Leu1725Val missense NM_001406675.1:c.5170C>G NP_001393604.1:p.Leu1724Val missense NM_001406676.1:c.5167C>G NP_001393605.1:p.Leu1723Val missense NM_001406677.1:c.5128C>G NP_001393606.1:p.Leu1710Val missense NM_001406678.1:c.5074C>G NP_001393607.1:p.Leu1692Val missense NM_001406679.1:c.5038C>G NP_001393608.1:p.Leu1680Val missense NM_001406680.1:c.4786C>G NP_001393609.1:p.Leu1596Val missense NM_001406681.1:c.4726C>G NP_001393610.1:p.Leu1576Val missense NM_001406682.1:c.4717C>G NP_001393611.1:p.Leu1573Val missense NM_001406683.1:c.4717C>G NP_001393612.1:p.Leu1573Val missense NM_001406684.1:c.4714C>G NP_001393613.1:p.Leu1572Val missense NM_001406685.1:c.4588C>G NP_001393614.1:p.Leu1530Val missense NM_001406686.1:c.4588C>G NP_001393615.1:p.Leu1530Val missense NM_001406687.1:c.4585C>G NP_001393616.1:p.Leu1529Val missense NM_001406688.1:c.4585C>G NP_001393617.1:p.Leu1529Val missense NM_001406689.1:c.3973C>G NP_001393618.1:p.Leu1325Val missense NM_001406690.1:c.3913C>G NP_001393619.1:p.Leu1305Val missense NM_001406691.1:c.3910C>G NP_001393620.1:p.Leu1304Val missense NM_001406692.1:c.3844C>G NP_001393621.1:p.Leu1282Val missense NM_001406693.1:c.3844C>G NP_001393622.1:p.Leu1282Val missense NM_001406694.1:c.3844C>G NP_001393623.1:p.Leu1282Val missense NM_001406695.1:c.3841C>G NP_001393624.1:p.Leu1281Val missense NM_001406696.1:c.3841C>G NP_001393625.1:p.Leu1281Val missense NM_001406697.1:c.3841C>G NP_001393626.1:p.Leu1281Val missense NM_001406698.1:c.3583C>G NP_001393627.1:p.Leu1195Val missense NM_021055.3:c.5257C>G NP_066399.2:p.Leu1753Val missense NR_176225.1:n.5338C>G non-coding transcript variant NR_176226.1:n.5586C>G non-coding transcript variant NR_176227.1:n.5514C>G non-coding transcript variant NR_176228.1:n.5335C>G non-coding transcript variant NR_176229.1:n.5260C>G non-coding transcript variant NC_000016.10:g.2088572C>G NC_000016.9:g.2138573C>G NG_005895.1:g.44267C>G NG_008617.1:g.54649G>C LRG_487:g.44267C>G LRG_487t1:c.5386C>G LRG_487p1:p.Leu1796Val - Protein change
- L1282V, L1529V, L1572V, L1576V, L1693V, L1726V, L1730V, L1759V, L1760V, L1195V, L1596V, L1680V, L1710V, L1723V, L1725V, L1736V, L1740V, L1752V, L1773V, L1795V, L1304V, L1305V, L1552V, L1681V, L1692V, L1724V, L1753V, L1796V, L1281V, L1325V, L1530V, L1573V, L1729V, L1749V, L1770V, L1772V
- Other names
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- Canonical SPDI
- NC_000016.10:2088571:C: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
Help
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 | ||
|---|---|---|---|---|---|---|
| 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. |
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| TSC2 | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
10752 | 10951 | |
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. |
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| Uncertain significance (1) |
criteria provided, single submitter
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Nov 27, 2022 | RCV003177895.2 |
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
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. |
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Uncertain significance
(Nov 27, 2022)
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criteria provided, single submitter
Method: clinical testing
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Hereditary cancer-predisposing syndrome
Affected status: unknown
Allele origin:
germline
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Ambry Genetics
Accession: SCV003870068.2
First in ClinVar: Apr 15, 2023 Last updated: May 01, 2024 |
Comment:
The p.L1796V variant (also known as c.5386C>G), located in coding exon 41 of the TSC2 gene, results from a C to G substitution at nucleotide … (more)
The p.L1796V variant (also known as c.5386C>G), located in coding exon 41 of the TSC2 gene, results from a C to G substitution at nucleotide position 5386. The leucine at codon 1796 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. (less)
|
Comment:
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. |
Comment:
The p.L1796V variant (also known as c.5386C>G), located in coding exon 41 of the TSC2 gene, results from a C to G substitution at nucleotide position 5386. The leucine at codon 1796 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
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 May 01, 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.