ClinVar Genomic variation as it relates to human health
NM_000548.5(TSC2):c.2821_2825delinsCGG (p.Asn941fs)
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
-
NM_000548.5(TSC2):c.2821_2825delinsCGG (p.Asn941fs)
Variation ID: 3248567 Accession: VCV003248567.1
- Type and length
-
Indel, 5 bp
- Location
-
Cytogenetic: 16p13.3 16: 2076569-2076573 (GRCh38) [ NCBI UCSC ] 16: 2126570-2126574 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
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 7, 2024 Jul 7, 2024 Jul 2, 2024 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000548.5:c.2821_2825delinsCGG MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000539.2:p.Asn941fs frameshift NM_001077183.3:c.2821_2825delinsCGG NP_001070651.1:p.Asn941fs frameshift NM_001114382.3:c.2821_2825delinsCGG NP_001107854.1:p.Asn941fs frameshift NM_001318827.2:c.2710_2714delinsCGG NP_001305756.1:p.Asn904fs frameshift NM_001318829.2:c.2674_2678delinsCGG NP_001305758.1:p.Asn892fs frameshift NM_001318831.2:c.2221_2225delinsCGG NP_001305760.1:p.Asn741fs frameshift NM_001318832.2:c.2854_2858delinsCGG NP_001305761.1:p.Asn952fs frameshift NM_001363528.2:c.2821_2825delinsCGG NP_001350457.1:p.Asn941fs frameshift NM_001370404.1:c.2821_2825delinsCGG NP_001357333.1:p.Asn941fs frameshift NM_001370405.1:c.2821_2825delinsCGG NP_001357334.1:p.Asn941fs frameshift NM_001406663.1:c.2821_2825delinsCGG NP_001393592.1:p.Asn941fs frameshift NM_001406664.1:c.2821_2825delinsCGG NP_001393593.1:p.Asn941fs frameshift NM_001406665.1:c.2821_2825delinsCGG NP_001393594.1:p.Asn941fs frameshift NM_001406667.1:c.2911_2915delinsCGG NP_001393596.1:p.Asn971fs frameshift NM_001406668.1:c.2911_2915delinsCGG NP_001393597.1:p.Asn971fs frameshift NM_001406670.1:c.2710_2714delinsCGG NP_001393599.1:p.Asn904fs frameshift NM_001406671.1:c.2809_2813delinsCGG NP_001393600.1:p.Asn937fs frameshift NM_001406673.1:c.2809_2813delinsCGG NP_001393602.1:p.Asn937fs frameshift NM_001406675.1:c.2674_2678delinsCGG NP_001393604.1:p.Asn892fs frameshift NM_001406676.1:c.2674_2678delinsCGG NP_001393605.1:p.Asn892fs frameshift NM_001406677.1:c.2764_2768delinsCGG NP_001393606.1:p.Asn922fs frameshift NM_001406678.1:c.2710_2714delinsCGG NP_001393607.1:p.Asn904fs frameshift NM_001406679.1:c.2674_2678delinsCGG NP_001393608.1:p.Asn892fs frameshift NM_001406680.1:c.2221_2225delinsCGG NP_001393609.1:p.Asn741fs frameshift NM_001406681.1:c.2359_2363delinsCGG NP_001393610.1:p.Asn787fs frameshift NM_001406682.1:c.2221_2225delinsCGG NP_001393611.1:p.Asn741fs frameshift NM_001406683.1:c.2221_2225delinsCGG NP_001393612.1:p.Asn741fs frameshift NM_001406684.1:c.2221_2225delinsCGG NP_001393613.1:p.Asn741fs frameshift NM_001406685.1:c.2221_2225delinsCGG NP_001393614.1:p.Asn741fs frameshift NM_001406686.1:c.2221_2225delinsCGG NP_001393615.1:p.Asn741fs frameshift NM_001406687.1:c.2221_2225delinsCGG NP_001393616.1:p.Asn741fs frameshift NM_001406688.1:c.2221_2225delinsCGG NP_001393617.1:p.Asn741fs frameshift NM_001406689.1:c.1477_1481delinsCGG NP_001393618.1:p.Asn493fs frameshift NM_001406690.1:c.1477_1481delinsCGG NP_001393619.1:p.Asn493fs frameshift NM_001406691.1:c.1477_1481delinsCGG NP_001393620.1:p.Asn493fs frameshift NM_001406692.1:c.1477_1481delinsCGG NP_001393621.1:p.Asn493fs frameshift NM_001406693.1:c.1477_1481delinsCGG NP_001393622.1:p.Asn493fs frameshift NM_001406694.1:c.1477_1481delinsCGG NP_001393623.1:p.Asn493fs frameshift NM_001406695.1:c.1477_1481delinsCGG NP_001393624.1:p.Asn493fs frameshift NM_001406696.1:c.1477_1481delinsCGG NP_001393625.1:p.Asn493fs frameshift NM_001406697.1:c.1477_1481delinsCGG NP_001393626.1:p.Asn493fs frameshift NM_001406698.1:c.1219_1223delinsCGG NP_001393627.1:p.Asn407fs frameshift NM_021055.3:c.2821_2825delinsCGG NP_066399.2:p.Asn941fs frameshift NR_176225.1:n.2971_2975delinsCGG non-coding transcript variant NR_176226.1:n.3150_3154delinsCGG non-coding transcript variant NR_176227.1:n.3150_3154delinsCGG non-coding transcript variant NR_176228.1:n.2971_2975delinsCGG non-coding transcript variant NR_176229.1:n.2931_2935delinsCGG non-coding transcript variant NC_000016.10:g.2076569_2076573delinsCGG NC_000016.9:g.2126570_2126574delinsCGG NG_005895.1:g.32264_32268delinsCGG LRG_487:g.32264_32268delinsCGG LRG_487t1:c.2821_2825delAACGAinsCGG LRG_487p1:p.Asn941Argfs - Protein change
- N407fs, N493fs, N741fs, N787fs, N892fs, N904fs, N922fs, N937fs, N941fs, N952fs, N971fs
- Other names
- -
- Canonical SPDI
- NC_000016.10:2076568:AACGA:CGG
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
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.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- 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. |
|||
| 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. |
|---|---|---|---|---|
| Likely pathogenic (1) |
criteria provided, single submitter
|
Jul 2, 2024 | RCV004584258.1 |
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. |
|
|---|---|---|---|---|---|
|
Likely pathogenic
(Jul 02, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Tuberous sclerosis 2
(Autosomal dominant inheritance)
Affected status: yes
Allele origin:
germline
|
Department of Human Genetics, Hannover Medical School
Accession: SCV005068267.1
First in ClinVar: Jul 07, 2024 Last updated: Jul 07, 2024 |
Clinical Features:
Cardiac rhabdomyoma (present)
|
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 Jul 15, 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.