Classification
Category 1
CMH MAF
1 /
6955 samples
(0.0144%)
1 het.,
0 hom.
(100%)
1 /
13910 total alleles
(0.00719%)
Genes
gene: MTOR
synonym(s): FRAP, FRAP1, FRAP2, RAFT1, RAPT1, MTOR, ENSG00000198793
NM_004958.3
[CDS]
Reportable
hgvs_c: NM_004958.3:c.4448G>T
reference AA: C
variant AA: F
reference codon: tGc
variant codon: tTc
cDNA pos: 4569
CDS pos: 4448
translation impact: non_synonymous
protein sequence:
NP_004949.1
AA pos: 1483
hgvs_p: NP_004949.1:p.Cys1483Phe
blosum: -2
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.991)
dbSNP
rs786205165
ClinVar
190121
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Renal cell carcinoma
clinvar_submission_scv = SCV000280983.1
COSMIC
COSMIC Mutation ID = COSM462616
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true
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