1:3329051-3329051 G > A

Classification

Category 4 curation
CMH MAF 50 / 13144 samples (0.38%)
50 het., 0 hom. (100%)
50 / 26288 total alleles (0.19%)

gene: PRDM16 synonym(s): MEL1, PFM13, PRDM16, ENSG00000142611

OMIM
OMIM:605557: PRDM16 (Autosomal dominant inheritance)
OMIM:615373: Cardiomyopathy, dilated, 1LL
OMIM:615373: Left ventricular noncompaction 8

NM_022114.3 [CDS]
hgvs_c: NM_022114.3:c.2290G>A
reference AA: V
variant AA: M
reference codon: Gtg
variant codon: Atg
cDNA pos: 2372
CDS pos: 2290
translation impact: non_synonymous
protein sequence: NP_071397.3
AA pos: 764
hgvs_p: NP_071397.3:p.Val764Met
blosum: 1
SIFT: tolerated (0.14)
PolyPhen2: benign (0.044)

rs149333409
GMAF = 0.0007987
TOPMED_MAF = 0.00131402905198776

EVS
EVS MAF (European American/African American/All) = 0.002402,0.000000,0.001621

ExAC Non-Finnish, (128 / 65644), 0.195%
gnomAD North-Western European, (123 / 50334), 0.244% curated_classification = 4