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NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Nov 17, 2021)
Last evaluated:
Nov 9, 2021
Accession:
VCV000281341.10
Variation ID:
281341
Description:
single nucleotide variant
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NM_000548.5(TSC2):c.3366T>C (p.Arg1122=)

Allele ID
265578
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16p13.3
Genomic location
16: 2079638 (GRCh38) GRCh38 UCSC
16: 2129639 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_487t1:c.3366T>C
NC_000016.10:g.2079638T>C
NG_005895.1:g.35333T>C
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000016.10:2079637:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA046154
dbSNP: rs778352969
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Oct 4, 2020 RCV001081872.2
Likely benign 1 criteria provided, single submitter Nov 18, 2015 RCV001020105.1
Likely benign 1 criteria provided, single submitter Jun 9, 2020 RCV001286119.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Nov 9, 2021 RCV000724868.5
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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
Uncertain significance
(Jun 15, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332089.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Likely benign
(Nov 18, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001181538.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Jun 09, 2020)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001472645.1
Submitted: (Dec 11, 2020)
Evidence details
Benign
(Oct 04, 2020)
criteria provided, single submitter
Method: clinical testing
Tuberous sclerosis 2
Allele origin: germline
Invitae
Accession: SCV000556537.6
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Nov 09, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000730293.2
Submitted: (Nov 17, 2021)
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=TSC2 - - - -

Text-mined citations for rs778352969...

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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 20, 2021