16:89180844-89180844 G > A

Classification

Category 1
CMH MAF 28 / 13144 samples (0.213%)
28 het., 0 hom. (100%)
28 / 26288 total alleles (0.107%)

gene: ACSF3 synonym(s): ACSF3, ENSG00000176715

OMIM
OMIM:614245: ACSF3 (Autosomal recessive inheritance)
OMIM:614265: Combined malonic and methylmalonic aciduria

NM_174917.3 [CDS]
hgvs_c: NM_174917.3:c.1075G>A
reference AA: E
variant AA: K
reference codon: Gag
variant codon: Aag
cDNA pos: 1452
CDS pos: 1075
translation impact: non_synonymous
protein sequence: NP_777577.2
AA pos: 359
hgvs_p: NP_777577.2:p.Glu359Lys
blosum: 1
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.992)

rs150487794
GMAF = 0.0007987
TOPMED_MAF = 0.00083620030581039

31136
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Combined malonic and methylmalonic aciduria

EVS
EVS MAF (European American/African American/All) = 0.001279,0.000000,0.000846

ExAC America/Latino, (14 / 11566), 0.121%
COSMIC Mutation ID = COSV58082354
COSMIC_FATHMM_PREDICTION = PATHOGENIC
COSMIC_MUTATION_SOMATIC_STATUS = true

gnomAD North-Western European, (76 / 50758), 0.15%