Classification
Category 3
non_synonymous
CMH MAF
10 /
13105 samples
(0.0763%)
10 het.,
0 hom.
(100%)
10 /
26210 total alleles
(0.0382%)
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 = COSV52416439
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
76 / 24938 |
0.305% |
| America/Latino |
23 / 35416 |
0.0649% |
| Ashkenazi Jewish |
0 / 10362 |
0% |
| East Asian |
0 / 19952 |
0% |
| Finnish |
0 / 25122 |
0% |
| Non-Finnish |
13 / 129044 |
0.0101% |
| Other |
1 / 7222 |
0.0138% |
| South Asian |
0 / 30614 |
0% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 4818 |
0% |
| North-Western European |
12 / 50758 |
0.0236% |
| Southern European |
0 / 11602 |
0% |
| Swedish |
1 / 26126 |
0.00383% |
| Other non-Finnish European |
0 / 33070 |
0% |
| Total MAF |
113 / 282670 |
0.04% |
Export Variant