Classification

Category 1

CMH MAF

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

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
clinvar_disease = Renal cell carcinoma

COSMIC

COSMIC Mutation ID = COSV63869079
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

Export Variant

Curation

Pathogenic