Classification
Category 3
non_synonymous
CMH MAF
6 /
6916 samples
(0.0868%)
6 het.,
0 hom.
(100%)
6 /
13832 total alleles
(0.0434%)
Genes
gene: MAD2L2
synonym(s): MAD2B, POLZ2, REV7, MAD2L2, ENSG00000116670
NM_001127325.1
[CDS]
Reportable
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)
NM_006341.3
[CDS]
hgvs_c: NM_006341.3:c.278G>A
reference AA: R
variant AA: H
reference codon: cGc
variant codon: cAc
cDNA pos: 466
CDS pos: 278
translation impact: non_synonymous
protein sequence:
NP_006332.3
AA pos: 93
hgvs_p: NP_006332.3:p.Arg93His
blosum: 0
SIFT: tolerated (0.21)
PolyPhen2: benign (0.002)
dbSNP
rs151024263
GMAF = 0.000599
TOPMED_MAF = 0.00109104230377166
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.004085,0.001384
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
36 / 10354 |
0.348% |
| America/Latino |
5 / 11548 |
0.0433% |
| East Asian |
0 / 8646 |
0% |
| Finnish |
0 / 6610 |
0% |
| Non-Finnish |
3 / 66448 |
0.00451% |
| Other |
0 / 906 |
0% |
| South Asian |
0 / 16496 |
0% |
| Total MAF |
44 / 121008 |
0.0364% |
COSMIC
COSMIC Mutation ID = COSM4784326
COSMIC_MUTATION_SOMATIC_STATUS = true
COSMIC Mutation ID = COSM1333018
COSMIC_MUTATION_SOMATIC_STATUS = true
COSMIC Mutation ID = COSM4784327
COSMIC_MUTATION_SOMATIC_STATUS = true
COSMIC Mutation ID = COSM4784325
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
75 / 24010 |
0.312% |
| America/Latino |
23 / 34414 |
0.0668% |
| Ashkenazi Jewish |
0 / 10150 |
0% |
| East Asian |
0 / 18868 |
0% |
| Finnish |
0 / 25792 |
0% |
| Non-Finnish |
15 / 126598 |
0.0118% |
| Other |
1 / 6464 |
0.0155% |
| South Asian |
0 / 30780 |
0% |
| Total MAF |
114 / 277076 |
0.0411% |
Export Variant