11:22249088-22249088 G > A

Classification

Category 5 curation
CMH MAF 83 / 13144 samples (0.631%)
81 het., 2 hom. (97.6%)
85 / 26288 total alleles (0.323%)

gene: ANO5 synonym(s): GDD1, LGMD2L, TMEM16E, ANO5, ENSG00000171714

OMIM
OMIM:608662: ANO5 (Autosomal dominant inheritance)
OMIM:166260: Gnathodiaphyseal dysplasia
OMIM:613319: Miyoshi muscular dystrophy 3
OMIM:611307: Muscular dystrophy, limb-girdle, autosomal recessive 12

NM_213599.2 [CDS]
hgvs_c: NM_213599.2:c.604G>A
reference AA: E
variant AA: K
reference codon: Gaa
variant codon: Aaa
cDNA pos: 921
CDS pos: 604
translation impact: non_synonymous
protein sequence: NP_998764.1
AA pos: 202
hgvs_p: NP_998764.1:p.Glu202Lys
blosum: 1
SIFT: tolerated (0.59)
PolyPhen2: benign (0.015)

rs115750596
GMAF = 0.009385
TOPMED_MAF = 0.00923005861365953

263316
clinvar_significance = Benign_Likely_benign
clinvar_disease = Gnathodiaphyseal dysplasia
clinvar_disease = Limb-girdle muscular dystrophy

EVS
EVS MAF (European American/African American/All) = 0.000349,0.034044,0.011764

ExAC African, (318 / 10396), 3.06%
gnomAD African, (785 / 24948), 3.15% curated_classification = 5