1:11308007-11308007 C > T

Classification

Category 5 curation
CMH MAF 104 / 13144 samples (0.791%)
104 het., 0 hom. (100%)
104 / 26288 total alleles (0.396%)

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.985G>A
reference AA: A
variant AA: T
reference codon: Gcc
variant codon: Acc
cDNA pos: 1106
CDS pos: 985
translation impact: non_synonymous
protein sequence: NP_004949.1
AA pos: 329
hgvs_p: NP_004949.1:p.Ala329Thr
blosum: 0
SIFT: tolerated (0.63)
PolyPhen2: benign (0.057)

rs35903812
GMAF = 0.001797
TOPMED_MAF = 0.00271566004077471

414904
clinvar_significance = Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.004535,0.000454,0.003152

ExAC Non-Finnish, (271 / 66658), 0.407%
COSMIC Mutation ID = COSV63870597
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD Bulgarian, (19 / 2670), 0.712% curated_classification = 5