Classification
Category 3
non_synonymous
CMH MAF
3 /
13144 samples
(0.0228%)
3 het.,
0 hom.
(100%)
3 /
26288 total alleles
(0.0114%)
Genes
gene: WAC
synonym(s): BM-016, PRO1741, Wwp4, WAC, ENSG00000095787
NM_016628.4
[CDS]
Reportable
hgvs_c: NM_016628.4:c.1460A>C
reference AA: Q
variant AA: P
reference codon: cAa
variant codon: cCa
cDNA pos: 1548
CDS pos: 1460
translation impact: non_synonymous
protein sequence:
NP_057712.2
AA pos: 487
hgvs_p: NP_057712.2:p.Gln487Pro
blosum: -1
SIFT: tolerated (0.34)
PolyPhen2: benign (0.007)
NM_100486.3
[CDS]
hgvs_c: NM_100486.3:c.1151A>C
reference AA: Q
variant AA: P
reference codon: cAa
variant codon: cCa
cDNA pos: 1239
CDS pos: 1151
translation impact: non_synonymous
protein sequence:
NP_567823.1
AA pos: 384
hgvs_p: NP_567823.1:p.Gln384Pro
blosum: -1
SIFT: tolerated (0.5)
PolyPhen2: benign (0.013)
NR_024557.2
[exon]
hgvs_c: NR_024557.2:n.1934A>C
cDNA pos: 1934
dbSNP
rs140693511
TOPMED_MAF = 0.00006371049949031
ClinVar
445766
clinvar_significance = Uncertain_significance
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000000,0.000681,0.000231
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
6 / 10402 |
0.0577% |
| America/Latino |
0 / 11572 |
0% |
| East Asian |
0 / 8650 |
0% |
| Finnish |
0 / 6614 |
0% |
| Non-Finnish |
0 / 66664 |
0% |
| Other |
0 / 908 |
0% |
| South Asian |
0 / 16508 |
0% |
| Total MAF |
6 / 121318 |
0.00495% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
12 / 24970 |
0.0481% |
| America/Latino |
0 / 35434 |
0% |
| Ashkenazi Jewish |
0 / 10364 |
0% |
| East Asian |
0 / 19950 |
0% |
| Finnish |
0 / 25114 |
0% |
| Non-Finnish |
0 / 129082 |
0% |
| Other |
0 / 7220 |
0% |
| South Asian |
0 / 30614 |
0% |
| Korean |
0 / 3814 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
0 / 2670 |
0% |
| Estonian |
0 / 4834 |
0% |
| North-Western European |
0 / 50746 |
0% |
| Southern European |
0 / 11594 |
0% |
| Swedish |
0 / 26130 |
0% |
| Other non-Finnish European |
0 / 33108 |
0% |
| Total MAF |
12 / 282748 |
0.00424% |
Export Variant