1:11252369-11252369 G > A

Classification

Category 5 curation
CMH MAF 53 / 13106 samples (0.404%)
52 het., 1 hom. (98.1%)
54 / 26212 total alleles (0.206%)

gene: ANGPTL7 synonym(s): AngX, CDT6, dJ647M16.1, RP4-647M16.2, ANGPTL7, ENSG00000171819

NM_021146.3 [CDS]
hgvs_c: NM_021146.3:c.419G>A
reference AA: R
variant AA: H
reference codon: cGc
variant codon: cAc
cDNA pos: 710
CDS pos: 419
translation impact: non_synonymous
protein sequence: NP_066969.1
AA pos: 140
hgvs_p: NP_066969.1:p.Arg140His
blosum: 0
SIFT: tolerated (0.12)
PolyPhen2: benign (0.001)

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 [intron]
hgvs_c: NM_004958.3:c.4253+6946C>T
protein sequence: NP_004949.1

rs28991002
GMAF = 0.001198
TOPMED_MAF = 0.00162461773700305

EVS
EVS MAF (European American/African American/All) = 0.003023,0.000227,0.002076

ExAC Finnish, (29 / 6614), 0.438%
COSMIC Mutation ID = COSV63871137
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD Finnish, (160 / 25048), 0.639% curated_classification = 5