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NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
5 (Most recent: Sep 13, 2016)
Last evaluated:
Aug 26, 2014
Accession:
VCV000190121.1
Variation ID:
190121
Description:
single nucleotide variant
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NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe)

Allele ID
187953
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
1p36.22
Genomic location
1: 11157173 (GRCh38) GRCh38 UCSC
1: 11217230 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000001.10:g.11217230C>A
NC_000001.11:g.11157173C>A
NM_004958.4:c.4448G>T MANE Select NP_004949.1:p.Cys1483Phe missense
... more HGVS
Protein change
C1483F
Other names
-
Canonical SPDI
NC_000001.11:11157172:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA199563
OMIM: 601231.0001
dbSNP: rs786205165
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Aug 26, 2014 RCV000224544.1
Pathogenic 1 no assertion criteria provided Sep 13, 2016 RCV000170355.5
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000420307.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000431004.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000441022.1
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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
960 1055

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 26, 2014)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: de novo
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics
Accession: SCV000280983.1
Submitted: (May 19, 2016)
Evidence details
Pathogenic
(Sep 13, 2016)
no assertion criteria provided
Method: literature only
SMITH-KINGSMORE SYNDROME
Allele origin: germline
OMIM
Accession: SCV000222764.3
Submitted: (Sep 13, 2016)
Evidence details
Publications
Smith, L. D., Saunders, C. J.,  (more...)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Glioblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506719.1
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
Breast neoplasm
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506720.1
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
Renal cell carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000506721.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

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
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.4448G>T - - - -
Smith, L. D., Saunders, C. J., Dinwiddie, D. L., Atherton, A. M., Miller, N. A., Soden, S. E., Farrow, E. G., Abdelmoity, A. T. G., Kingsmore, S. F. Exome sequencing reveals de novo germline mutation of mammalian target of rapamycin (MTOR) in a patient with megalencephaly and intractable seizures. J. Genomes Exomes 2: 63-72, 2013. - - - -

Text-mined citations for rs786205165...

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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 Mar 12, 2021