In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.5266_5276delinsCTTCAGAT, is a complex sequence change that results in the deletion of 4 and insertion of 3 amino acid(s) in the TSC2 protein (p.Glu1756_Ala1759delinsLeuGlnIle).
ClinVar Genomic variation as it relates to human health
NM_000548.5(TSC2):c.5266_5276delinsCTTCAGAT (p.Glu1756_Ala1759delinsLeuGlnIle)
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)
Help
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.5266_5276delinsCTTCAGAT (p.Glu1756_Ala1759delinsLeuGlnIle)
Variation ID: 1917216 Accession: VCV001917216.3
- Type and length
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Indel, 11 bp
- Location
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Cytogenetic: 16p13.3 16: 2088452-2088462 (GRCh38) [ NCBI UCSC ] 16: 2138453-2138463 (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 Feb 7, 2023 Feb 28, 2024 Feb 28, 2022 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000548.5:c.5266_5276delinsCTTCAGAT MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000539.2:p.Glu1756_Ala1759delinsLeuGlnIle inframe indel NM_001077183.3:c.5065_5075delinsCTTCAGAT NP_001070651.1:p.Glu1689_Ala1692delinsLeuGlnIle inframe indel NM_001114382.3:c.5197_5207delinsCTTCAGAT NP_001107854.1:p.Glu1733_Ala1736delinsLeuGlnIle inframe indel NM_001318827.2:c.4957_4967delinsCTTCAGAT NP_001305756.1:p.Glu1653_Ala1656delinsLeuGlnIle inframe indel NM_001318829.2:c.4921_4931delinsCTTCAGAT NP_001305758.1:p.Glu1641_Ala1644delinsLeuGlnIle inframe indel NM_001318831.2:c.4534_4544delinsCTTCAGAT NP_001305760.1:p.Glu1512_Ala1515delinsLeuGlnIle inframe indel NM_001318832.2:c.5098_5108delinsCTTCAGAT NP_001305761.1:p.Glu1700_Ala1703delinsLeuGlnIle inframe indel NM_001363528.2:c.5068_5078delinsCTTCAGAT NP_001350457.1:p.Glu1690_Ala1693delinsLeuGlnIle inframe indel NM_001370404.1:c.5134_5144delinsCTTCAGAT NP_001357333.1:p.Glu1712_Ala1715delinsLeuGlnIle inframe indel NM_001370405.1:c.5125_5135delinsCTTCAGAT NP_001357334.1:p.Glu1709_Ala1712delinsLeuGlnIle inframe indel NM_001406663.1:c.5263_5273delGAGGAAGCCGCinsCTTCAGAT NP_001393592.1:p.Glu1755_Ala1758delinsLeuGlnIle inframe indel NM_001406664.1:c.5194_5204delGAGGAAGCCGCinsCTTCAGAT NP_001393593.1:p.Glu1732_Ala1735delinsLeuGlnIle inframe indel NM_001406665.1:c.5188_5198delGAGGAAGCCGCinsCTTCAGAT NP_001393594.1:p.Glu1730_Ala1733delinsLeuGlnIle inframe indel NM_001406667.1:c.5158_5168delGAGGAAGCCGCinsCTTCAGAT NP_001393596.1:p.Glu1720_Ala1723delinsLeuGlnIle inframe indel NM_001406668.1:c.5155_5165delGAGGAAGCCGCinsCTTCAGAT NP_001393597.1:p.Glu1719_Ala1722delinsLeuGlnIle inframe indel NM_001406670.1:c.5086_5096delGAGGAAGCCGCinsCTTCAGAT NP_001393599.1:p.Glu1696_Ala1699delinsLeuGlnIle inframe indel NM_001406671.1:c.5056_5066delGAGGAAGCCGCinsCTTCAGAT NP_001393600.1:p.Glu1686_Ala1689delinsLeuGlnIle inframe indel NM_001406673.1:c.5053_5063delGAGGAAGCCGCinsCTTCAGAT NP_001393602.1:p.Glu1685_Ala1688delinsLeuGlnIle inframe indel NM_001406675.1:c.5050_5060delGAGGAAGCCGCinsCTTCAGAT NP_001393604.1:p.Glu1684_Ala1687delinsLeuGlnIle inframe indel NM_001406676.1:c.5047_5057delGAGGAAGCCGCinsCTTCAGAT NP_001393605.1:p.Glu1683_Ala1686delinsLeuGlnIle inframe indel NM_001406677.1:c.5008_5018delGAGGAAGCCGCinsCTTCAGAT NP_001393606.1:p.Glu1670_Ala1673delinsLeuGlnIle inframe indel NM_001406678.1:c.4954_4964delGAGGAAGCCGCinsCTTCAGAT NP_001393607.1:p.Glu1652_Ala1655delinsLeuGlnIle inframe indel NM_001406679.1:c.4918_4928delGAGGAAGCCGCinsCTTCAGAT NP_001393608.1:p.Glu1640_Ala1643delinsLeuGlnIle inframe indel NM_001406680.1:c.4666_4676delGAGGAAGCCGCinsCTTCAGAT NP_001393609.1:p.Glu1556_Ala1559delinsLeuGlnIle inframe indel NM_001406681.1:c.4606_4616delGAGGAAGCCGCinsCTTCAGAT NP_001393610.1:p.Glu1536_Ala1539delinsLeuGlnIle inframe indel NM_001406682.1:c.4597_4607delGAGGAAGCCGCinsCTTCAGAT NP_001393611.1:p.Glu1533_Ala1536delinsLeuGlnIle inframe indel NM_001406683.1:c.4597_4607delGAGGAAGCCGCinsCTTCAGAT NP_001393612.1:p.Glu1533_Ala1536delinsLeuGlnIle inframe indel NM_001406684.1:c.4594_4604delGAGGAAGCCGCinsCTTCAGAT NP_001393613.1:p.Glu1532_Ala1535delinsLeuGlnIle inframe indel NM_001406685.1:c.4468_4478delGAGGAAGCCGCinsCTTCAGAT NP_001393614.1:p.Glu1490_Ala1493delinsLeuGlnIle inframe indel NM_001406686.1:c.4468_4478delGAGGAAGCCGCinsCTTCAGAT NP_001393615.1:p.Glu1490_Ala1493delinsLeuGlnIle inframe indel NM_001406687.1:c.4465_4475delGAGGAAGCCGCinsCTTCAGAT NP_001393616.1:p.Glu1489_Ala1492delinsLeuGlnIle inframe indel NM_001406688.1:c.4465_4475delGAGGAAGCCGCinsCTTCAGAT NP_001393617.1:p.Glu1489_Ala1492delinsLeuGlnIle inframe indel NM_001406689.1:c.3853_3863delGAGGAAGCCGCinsCTTCAGAT NP_001393618.1:p.Glu1285_Ala1288delinsLeuGlnIle inframe indel NM_001406690.1:c.3793_3803delGAGGAAGCCGCinsCTTCAGAT NP_001393619.1:p.Glu1265_Ala1268delinsLeuGlnIle inframe indel NM_001406691.1:c.3790_3800delGAGGAAGCCGCinsCTTCAGAT NP_001393620.1:p.Glu1264_Ala1267delinsLeuGlnIle inframe indel NM_001406692.1:c.3724_3734delGAGGAAGCCGCinsCTTCAGAT NP_001393621.1:p.Glu1242_Ala1245delinsLeuGlnIle inframe indel NM_001406693.1:c.3724_3734delGAGGAAGCCGCinsCTTCAGAT NP_001393622.1:p.Glu1242_Ala1245delinsLeuGlnIle inframe indel NM_001406694.1:c.3724_3734delGAGGAAGCCGCinsCTTCAGAT NP_001393623.1:p.Glu1242_Ala1245delinsLeuGlnIle inframe indel NM_001406695.1:c.3721_3731delGAGGAAGCCGCinsCTTCAGAT NP_001393624.1:p.Glu1241_Ala1244delinsLeuGlnIle inframe indel NM_001406696.1:c.3721_3731delGAGGAAGCCGCinsCTTCAGAT NP_001393625.1:p.Glu1241_Ala1244delinsLeuGlnIle inframe indel NM_001406697.1:c.3721_3731delGAGGAAGCCGCinsCTTCAGAT NP_001393626.1:p.Glu1241_Ala1244delinsLeuGlnIle inframe indel NM_001406698.1:c.3463_3473delGAGGAAGCCGCinsCTTCAGAT NP_001393627.1:p.Glu1155_Ala1158delinsLeuGlnIle inframe indel NM_021055.3:c.5137_5147delinsCTTCAGAT NP_066399.2:p.Glu1713_Ala1716delinsLeuGlnIle inframe indel NR_176225.1:n.5218_5228delGAGGAAGCCGCinsCTTCAGAT NR_176226.1:n.5466_5476delGAGGAAGCCGCinsCTTCAGAT NR_176227.1:n.5394_5404delGAGGAAGCCGCinsCTTCAGAT NR_176228.1:n.5215_5225delGAGGAAGCCGCinsCTTCAGAT NR_176229.1:n.5140_5150delGAGGAAGCCGCinsCTTCAGAT NC_000016.10:g.2088452_2088462delinsCTTCAGAT NC_000016.9:g.2138453_2138463delinsCTTCAGAT NG_005895.1:g.44147_44157delinsCTTCAGAT NG_008617.1:g.54759_54769delinsATCTGAAG LRG_487:g.44147_44157delinsCTTCAGAT LRG_487t1:c.5266_5276delGAGGAAGCCGCinsCTTCAGAT LRG_487p1:p.Glu1756_Ala1759delinsLeuGlnIle - Protein change
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- Other names
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- Canonical SPDI
- NC_000016.10:2088451:GAGGAAGCCGC:CTTCAGAT
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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 |
10968 | 11169 | |
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. |
|---|---|---|---|---|
| Uncertain significance (1) |
criteria provided, single submitter
|
Feb 28, 2022 | RCV002598099.3 |
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
(Feb 28, 2022)
|
criteria provided, single submitter
Method: clinical testing
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Tuberous sclerosis 2
Affected status: unknown
Allele origin:
germline
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Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV002955824.2
First in ClinVar: Feb 07, 2023 Last updated: Feb 28, 2024 |
Comment:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant … (more)
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.5266_5276delinsCTTCAGAT, is a complex sequence change that results in the deletion of 4 and insertion of 3 amino acid(s) in the TSC2 protein (p.Glu1756_Ala1759delinsLeuGlnIle). (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:
In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with TSC2-related conditions. Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This variant, c.5266_5276delinsCTTCAGAT, is a complex sequence change that results in the deletion of 4 and insertion of 3 amino acid(s) in the TSC2 protein (p.Glu1756_Ala1759delinsLeuGlnIle).
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 Sep 29, 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.