Classification
Category 4
non_synonymous
CMH MAF
46 /
6955 samples
(0.661%)
46 het.,
0 hom.
(100%)
46 /
13910 total alleles
(0.331%)
Genes
gene: DVL1
synonym(s): DVL, DVL1L1, DVL1P1, DVL1, ENSG00000107404
NM_004421.2
[CDS]
Reportable
hgvs_c: NM_004421.2:c.1291A>G
reference AA: T
variant AA: A
reference codon: Aca
variant codon: Gca
cDNA pos: 1338
CDS pos: 1291
translation impact: non_synonymous
protein sequence:
NP_004412.2
AA pos: 431
hgvs_p: NP_004412.2:p.Thr431Ala
blosum: 0
SIFT: tolerated (0.78)
PolyPhen2: benign (0.001)
dbSNP
rs140107023
GMAF = 0.001198
TOPMED_MAF = 0.00226968654434250
ClinVar
445553
clinvar_significance = Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.003377,0.000454,0.002386
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
6 / 10092 |
0.0595% |
| America/Latino |
4 / 11476 |
0.0349% |
| East Asian |
0 / 8568 |
0% |
| Finnish |
8 / 6530 |
0.123% |
| Non-Finnish |
247 / 64792 |
0.381% |
| Other |
0 / 878 |
0% |
| South Asian |
20 / 16406 |
0.122% |
| Total MAF |
285 / 118742 |
0.24% |
COSMIC
COSMIC Mutation ID = COSM6650437
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true
COSMIC Mutation ID = COSM6650438
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
8 / 23854 |
0.0335% |
| America/Latino |
9 / 34376 |
0.0262% |
| Ashkenazi Jewish |
2 / 10086 |
0.0198% |
| East Asian |
0 / 18828 |
0% |
| Finnish |
47 / 25666 |
0.183% |
| Non-Finnish |
453 / 125472 |
0.361% |
| Other |
7 / 6422 |
0.109% |
| South Asian |
29 / 30766 |
0.0943% |
| Total MAF |
555 / 275470 |
0.201% |
Export Variant