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%)

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 = 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

Curation

Likely Benign