1:1277040-1277041 CA > -

Classification

Category 3

five_prime_flank

CMH MAF

51 / 11988 samples (0.425%)
50 het., 1 hom. (98%)
52 / 23976 total alleles (0.217%)

Genes

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

NM_004421.2 [intron] Reportable
hgvs_c: NM_004421.2:c.605+6_605+7del
splice impact: five_prime_flank
protein sequence: NP_004412.2

dbSNP

rs573517540
GMAF = 0.004992
TOPMED_MAF = 0.00610824413863404

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.001213,0.021586,0.008155

ExAC

ExAC
Ethnicity Count / Number MAF
African 183 / 9986 1.83%
America/Latino 15 / 11328 0.132%
East Asian 0 / 8560 0%
Finnish 0 / 6296 0%
Non-Finnish 4 / 63566 0.00629%
Other 0 / 830 0%
South Asian 0 / 13526 0%
Total MAF 202 / 114092 0.177%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 460 / 24782 1.86%
America/Latino 33 / 35108 0.094%
Ashkenazi Jewish 0 / 10008 0%
East Asian 0 / 19866 0%
Finnish 0 / 24874 0%
Non-Finnish 11 / 125598 0.00876%
Other 5 / 7098 0.0704%
South Asian 0 / 30006 0%
Korean 0 / 3814 0%
Japanese 0 / 150 0%
Other East Asian 0 / 14342 0%
Bulgarian 0 / 2640 0%
Estonian 0 / 4822 0%
North-Western European 3 / 48852 0.00614%
Southern European 5 / 11426 0.0438%
Swedish 0 / 25962 0%
Other non-Finnish European 3 / 31896 0.00941%
Total MAF 509 / 277340 0.184%


Export Variant

Curation

Likely Benign