1:55523855-55523855 G > A

Classification

Category 5
CMH MAF 205 / 13144 samples (1.56%)
195 het., 10 hom. (95.1%)
215 / 26288 total alleles (0.818%)

gene: PCSK9 synonym(s): FH3, HCHOLA3, LDLCQ1, NARC-1, NARC1, PC9, PCSK9, ENSG00000169174

OMIM
OMIM:607786: PCSK9 (Autosomal dominant inheritance)
OMIM:603776: Hypercholesterolemia, familial, 3
OMIM:603776: {Low density lipoprotein cholesterol level QTL 1}

NM_174936.3 [CDS]
hgvs_c: NM_174936.3:c.1327G>A
reference AA: A
variant AA: T
reference codon: Gcc
variant codon: Acc
cDNA pos: 1689
CDS pos: 1327
translation impact: non_synonymous
protein sequence: NP_777596.2
AA pos: 443
hgvs_p: NP_777596.2:p.Ala443Thr
blosum: 0
SIFT: tolerated (0.81)
PolyPhen2: benign (0.007)

gene: TRNAN-GUU synonym(s): TRNAN-GUU

TRNAN-GUU [intron]

rs28362263
GMAF = 0.02656
TOPMED_MAF = 0.03003153669724770

262900
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Familial hypercholesterolemias
clinvar_disease = Familial hypercholesterolemia
clinvar_disease = Familial hypobetalipoproteinemia
clinvar_disease = Hypercholesterolemia

EVS
EVS MAF (European American/African American/All) = 0.000116,0.083749,0.028448

ExAC African, (972 / 9910), 9.81%
COSMIC Mutation ID = COSV56165606
COSMIC_FATHMM_PREDICTION = NEUTRAL
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD African, (2373 / 24708), 9.6%