1:1273790-1273790 T > C

Classification

Category 4 curation
CMH MAF 95 / 13144 samples (0.723%)
95 het., 0 hom. (100%)
95 / 26288 total alleles (0.361%)

gene: DVL1 synonym(s): DVL, DVL1L1, DVL1P1, DVL1, ENSG00000107404

OMIM
OMIM:601365: DVL1
OMIM:616331: Robinow syndrome, autosomal dominant 2

NM_004421.2 [CDS]
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)

rs140107023
GMAF = 0.001198
TOPMED_MAF = 0.00226968654434250

445553
clinvar_significance = Likely_benign

EVS
EVS MAF (European American/African American/All) = 0.003377,0.000454,0.002386

ExAC Non-Finnish, (247 / 64792), 0.381%
COSMIC Mutation ID = COSV59562657
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD Swedish, (146 / 25996), 0.562% curated_classification = 4