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NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)

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Interpretation:
Pathogenic​

Review status:
reviewed by expert panel FDA Recognized Database
Submissions:
10 (Most recent: Sep 27, 2021)
Last evaluated:
Jan 31, 2021
Accession:
VCV000156703.4
Variation ID:
156703
Description:
single nucleotide variant
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NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe)

Allele ID
166563
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 11124516 (GRCh38) GRCh38 UCSC
1: 11184573 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_734:g.143036C>T
LRG_734t1:c.6644C>T
NC_000001.10:g.11184573G>A
... more HGVS
Protein change
S2215F
Other names
NM_004958.3(MTOR):c.6644C>T
p.Ser2215Phe
Canonical SPDI
NC_000001.11:11124515:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA248393
OMIM: 601231.0008
dbSNP: rs587777894
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 reviewed by expert panel Jan 31, 2021 RCV001723707.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000419624.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000429373.1
Pathogenic 1 no assertion criteria provided Sep 16, 2020 RCV000477713.5
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000436863.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000440054.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000422164.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000430308.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000439373.1
not provided 1 no assertion provided - RCV000190281.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
MTOR - - GRCh38
GRCh37
1066 1163

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jan 31, 2021)
reviewed by expert panel
Method: curation
Brain malformation
(Autosomal dominant inheritance)
Allele origin: germline
ClinGen Brain Malformations Variant Curation Expert Panel, ClinGen
FDA Recognized Database
Accession: SCV001949956.1
Submitted: (Sep 27, 2021)
Evidence details
Publications
PubMed (2)
Other databases
https://erepo.clinicalgenome.org…
Comment:
The 6644C>T S2215P missense variant in the MTOR gene is previously reported in the literature and has been classified as PATHOGENIC. This variant has been … (more)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Renal cell carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506740.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Glioblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506739.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506741.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Papillary renal cell carcinoma, sporadic
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506744.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant neoplasm of body of uterus
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506742.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Malignant melanoma of skin
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506743.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of uterine cervix
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506745.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Pathogenic
(Sep 16, 2020)
no assertion criteria provided
Method: literature only
FOCAL CORTICAL DYSPLASIA, TYPE II, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000564176.4
Submitted: (Apr 11, 2017)
Evidence details
Publications
PubMed (2)
not provided
(-)
no assertion provided
Method: not provided
not provided
Allele origin: not provided
James Howe Lab,University of Iowa Hospital and Clinics
Accession: SCV000191089.1
Submitted: (Nov 02, 2014)
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
Germline and somatic mutations in the <i>MTOR</i> gene in focal cortical dysplasia and epilepsy. Møller RS Neurology. Genetics 2016 PMID: 27830187
Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism. Mirzaa GM JAMA neurology 2016 PMID: 27159400
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
http://docm.genome.wustl.edu/variants/ENST00000361445:c.6644C>T - - - -
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/d0c7e9a9-5d12-4d15-9442-bf75fb5f4d15 - - - -

Text-mined citations for rs587777894...

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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 27, 2021