1:11736959-11736959 C > T

Classification

Category 3 non_synonymous
CMH MAF 10 / 13105 samples (0.0763%)
10 het., 0 hom. (100%)
10 / 26210 total alleles (0.0382%)

gene: MAD2L2 synonym(s): MAD2B, POLZ2, REV7, MAD2L2, ENSG00000116670

OMIM
OMIM:604094: MAD2L2
OMIM:617243: ?Fanconi anemia, complementation group V

NM_001127325.1 [CDS]
hgvs_c: NM_001127325.1:c.278G>A
reference AA: R
variant AA: H
reference codon: cGc
variant codon: cAc
cDNA pos: 499
CDS pos: 278
translation impact: non_synonymous
protein sequence: NP_001120797.1
AA pos: 93
hgvs_p: NP_001120797.1:p.Arg93His
blosum: 0
SIFT: tolerated (0.21)
PolyPhen2: benign (0.002)

rs151024263
GMAF = 0.000599
TOPMED_MAF = 0.00109104230377166

EVS
EVS MAF (European American/African American/All) = 0.000000,0.004085,0.001384

ExAC African, (36 / 10354), 0.348%
COSMIC Mutation ID = COSV52416439
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (76 / 24938), 0.305%