1:11217230-11217230 C > A

Classification

Category 1
CMH MAF 1 / 13144 samples (0.00761%)
1 het., 0 hom. (100%)
1 / 26288 total alleles (0.0038%)

gene: MTOR synonym(s): FRAP, FRAP1, FRAP2, RAFT1, RAPT1, MTOR, ENSG00000198793

OMIM
OMIM:601231: MTOR
OMIM:607341: Focal cortical dysplasia, type II, somatic
OMIM:616638: Smith-Kingsmore syndrome

NM_004958.3 [CDS]
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)

rs786205165

190121
clinvar_significance = Pathogenic
clinvar_disease = Renal cell carcinoma

COSMIC Mutation ID = COSV63869079
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true