1:1273790-1273790 T > C

Classification

Category 4

non_synonymous

CMH MAF

46 / 6955 samples (0.661%)
46 het., 0 hom. (100%)
46 / 13910 total alleles (0.331%)

Genes

Consequences
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

Curation

Likely Benign