ACMG Criteria: PVS1,PM2_SUP,PP4
ClinVar Genomic variation as it relates to human health
NM_000548.5(TSC2):c.1807_1808del (p.Thr603fs)
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.
Pathogenic
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.1807_1808del (p.Thr603fs)
Variation ID: 3370313 Accession: VCV003370313.1
- Type and length
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Microsatellite, 2 bp
- Location
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Cytogenetic: 16p13.3 16: 2070544-2070545 (GRCh38) [ NCBI UCSC ] 16: 2120545-2120546 (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 Nov 3, 2024 Nov 3, 2024 Oct 7, 2024 - HGVS
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... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000548.5:c.1807_1808del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000539.2:p.Thr603fs frameshift NM_001077183.3:c.1807_1808del NP_001070651.1:p.Thr603fs frameshift NM_001114382.3:c.1807_1808del NP_001107854.1:p.Thr603fs frameshift NM_001318827.2:c.1696_1697del NP_001305756.1:p.Thr566fs frameshift NM_001318829.2:c.1660_1661del NP_001305758.1:p.Thr554fs frameshift NM_001318831.2:c.1207_1208del NP_001305760.1:p.Thr403fs frameshift NM_001318832.2:c.1840_1841del NP_001305761.1:p.Thr614fs frameshift NM_001363528.2:c.1807_1808del NP_001350457.1:p.Thr603fs frameshift NM_001370404.1:c.1807_1808del NP_001357333.1:p.Thr603fs frameshift NM_001370405.1:c.1807_1808del NP_001357334.1:p.Thr603fs frameshift NM_001406663.1:c.1807_1808del NP_001393592.1:p.Thr603fs frameshift NM_001406664.1:c.1807_1808del NP_001393593.1:p.Thr603fs frameshift NM_001406665.1:c.1807_1808del NP_001393594.1:p.Thr603fs frameshift NM_001406667.1:c.1897_1898del NP_001393596.1:p.Thr633fs frameshift NM_001406668.1:c.1897_1898del NP_001393597.1:p.Thr633fs frameshift NM_001406670.1:c.1696_1697del NP_001393599.1:p.Thr566fs frameshift NM_001406671.1:c.1795_1796del NP_001393600.1:p.Thr599fs frameshift NM_001406673.1:c.1795_1796del NP_001393602.1:p.Thr599fs frameshift NM_001406675.1:c.1660_1661del NP_001393604.1:p.Thr554fs frameshift NM_001406676.1:c.1660_1661del NP_001393605.1:p.Thr554fs frameshift NM_001406677.1:c.1750_1751del NP_001393606.1:p.Thr584fs frameshift NM_001406678.1:c.1696_1697del NP_001393607.1:p.Thr566fs frameshift NM_001406679.1:c.1660_1661del NP_001393608.1:p.Thr554fs frameshift NM_001406680.1:c.1207_1208del NP_001393609.1:p.Thr403fs frameshift NM_001406681.1:c.1345_1346del NP_001393610.1:p.Thr449fs frameshift NM_001406682.1:c.1207_1208del NP_001393611.1:p.Thr403fs frameshift NM_001406683.1:c.1207_1208del NP_001393612.1:p.Thr403fs frameshift NM_001406684.1:c.1207_1208del NP_001393613.1:p.Thr403fs frameshift NM_001406685.1:c.1207_1208del NP_001393614.1:p.Thr403fs frameshift NM_001406686.1:c.1207_1208del NP_001393615.1:p.Thr403fs frameshift NM_001406687.1:c.1207_1208del NP_001393616.1:p.Thr403fs frameshift NM_001406688.1:c.1207_1208del NP_001393617.1:p.Thr403fs frameshift NM_001406689.1:c.463_464del NP_001393618.1:p.Thr155fs frameshift NM_001406690.1:c.463_464del NP_001393619.1:p.Thr155fs frameshift NM_001406691.1:c.463_464del NP_001393620.1:p.Thr155fs frameshift NM_001406692.1:c.463_464del NP_001393621.1:p.Thr155fs frameshift NM_001406693.1:c.463_464del NP_001393622.1:p.Thr155fs frameshift NM_001406694.1:c.463_464del NP_001393623.1:p.Thr155fs frameshift NM_001406695.1:c.463_464del NP_001393624.1:p.Thr155fs frameshift NM_001406696.1:c.463_464del NP_001393625.1:p.Thr155fs frameshift NM_001406697.1:c.463_464del NP_001393626.1:p.Thr155fs frameshift NM_001406698.1:c.205_206del NP_001393627.1:p.Thr69fs frameshift NM_021055.3:c.1807_1808del NP_066399.2:p.Thr603fs frameshift NR_176225.1:n.1915AC[1] non-coding transcript variant NR_176226.1:n.2134AC[1] non-coding transcript variant NR_176227.1:n.2134AC[1] non-coding transcript variant NR_176228.1:n.1915AC[1] non-coding transcript variant NR_176229.1:n.1915AC[1] non-coding transcript variant NC_000016.10:g.2070544AC[1] NC_000016.9:g.2120545AC[1] NG_005895.1:g.26239AC[1] LRG_487:g.26239AC[1] LRG_487t1:c.1805_1806AC[1] LRG_487p1:p.Thr603Profs - Protein change
- T155fs, T403fs, T449fs, T554fs, T566fs, T584fs, T599fs, T603fs, T614fs, T633fs, T69fs
- Other names
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- Canonical SPDI
- NC_000016.10:2070543:ACAC:AC
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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 |
10758 | 10957 | |
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. |
|---|---|---|---|---|
| Pathogenic (1) |
criteria provided, single submitter
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Oct 7, 2024 | RCV004776345.1 |
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
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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|---|---|---|---|---|---|
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Pathogenic
(Oct 07, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Tuberous sclerosis 2
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
MVZ Medizinische Genetik Mainz
Accession: SCV005387664.1
First in ClinVar: Nov 03, 2024 Last updated: Nov 03, 2024 |
Comment:
ACMG Criteria: PVS1,PM2_SUP,PP4
Number of individuals with the variant: 1
Clinical Features:
Renal cyst (present) , Multiple renal cysts (present)
|
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:
ACMG Criteria: PVS1,PM2_SUP,PP4
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 Nov 10, 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.