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NM_000548.5(TSC2):c.4493+17C>T

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 5, 2019)
Last evaluated:
Jun 21, 2019
Accession:
VCV000049995.3
Variation ID:
49995
Description:
single nucleotide variant
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NM_000548.5(TSC2):c.4493+17C>T

Allele ID
59157
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2084732 (GRCh38) GRCh38 UCSC
16: 2134733 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_487:g.40427C>T
NC_000016.10:g.2084732C>T
NG_005895.1:g.40427C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:2084731:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00013
Exome Aggregation Consortium (ExAC) 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00018
Links
ClinGen: CA020524
Tuberous sclerosis database (TSC2): TSC2_00678
dbSNP: rs45517345
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Jun 21, 2019 RCV000125688.6
not provided 1 no assertion provided - RCV000043262.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
TSC2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
6463 6629

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000305222.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Sep 04, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000169152.11
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jun 21, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001158518.1
Submitted: (Aug 05, 2019)
Evidence details
not provided
(-)
no assertion provided
Method: curation
TSC
Allele origin: germline
Tuberous sclerosis database (TSC2)
Accession: SCV000067063.3
Submitted: (Aug 09, 2013)
Evidence details

Functional evidence

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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 this variant

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Title Author Journal Year Link
Novel TSC2 mutations and decreased expression of tuberin in cultured tumor cells with an insertion mutation. Feng JH Human mutation 2004 PMID: 15024740

Text-mined citations for rs45517345...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 11, 2021