Classification
Category 4
curation
CMH MAF
95 /
13144 samples
(0.723%)
95 het.,
0 hom.
(100%)
95 /
26288 total alleles
(0.361%)
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 = COSV59562657
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
9 / 24724 |
0.0364% |
| America/Latino |
9 / 35344 |
0.0255% |
| Ashkenazi Jewish |
2 / 10248 |
0.0195% |
| East Asian |
0 / 19892 |
0% |
| Finnish |
41 / 24992 |
0.164% |
| Non-Finnish |
474 / 127342 |
0.372% |
| Other |
9 / 7166 |
0.126% |
| South Asian |
28 / 30586 |
0.0915% |
| Korean |
0 / 3816 |
0% |
| Japanese |
0 / 144 |
0% |
| Other East Asian |
0 / 14376 |
0% |
| Bulgarian |
1 / 2640 |
0.0379% |
| Estonian |
3 / 4802 |
0.0625% |
| North-Western European |
191 / 50226 |
0.38% |
| Southern European |
12 / 11468 |
0.105% |
| Swedish |
146 / 25996 |
0.562% |
| Other non-Finnish European |
121 / 32210 |
0.376% |
| Total MAF |
572 / 280294 |
0.204% |
curated_classification = 4
Export Variant