12:5153405-5153405 G > T

Classification

Category 5 curation
CMH MAF 129 / 13144 samples (0.981%)
128 het., 1 hom. (99.2%)
130 / 26288 total alleles (0.495%)

gene: KCNA5 synonym(s): ATFB7, HCK1, HK2, HPCN1, KV1.5, PCN1, KCNA5, ENSG00000130037

OMIM
OMIM:176267: KCNA5 (Autosomal dominant inheritance)
OMIM:612240: Atrial fibrillation, familial, 7

NM_002234.3 [CDS]
hgvs_c: NM_002234.3:c.92G>T
reference AA: G
variant AA: V
reference codon: gGg
variant codon: gTg
cDNA pos: 321
CDS pos: 92
translation impact: non_synonymous
protein sequence: NP_002225.2
AA pos: 31
hgvs_p: NP_002225.2:p.Gly31Val
blosum: -3
SIFT: tolerated_low_confidence (0.24)
PolyPhen2: benign (0.054)

rs61737395
GMAF = 0.01458
TOPMED_MAF = 0.01580816768603465

309332
clinvar_significance = Benign_Likely_benign
clinvar_disease = Atrial fibrillation

EVS
EVS MAF (European American/African American/All) = 0.000389,0.033506,0.011413

ExAC Non-Finnish, (8 / 3454), 0.232%
gnomAD African, (805 / 15754), 5.11% curated_classification = 5