1:45973216-45973217 - > A

Classification

Category 1
CMH MAF 42 / 14969 samples (0.281%)
42 het., 0 hom. (100%)
42 / 29938 total alleles (0.14%)

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

TRNAN-GUU [intron]

gene: MMACHC synonym(s): cblC, RP11-291L19.3, MMACHC, ENSG00000132763

OMIM
OMIM:609831: MMACHC (Autosomal recessive inheritance)
OMIM:277400: Methylmalonic aciduria and homocystinuria, cblC type

NM_015506.2 [CDS]
hgvs_c: NM_015506.2:c.271dupA
variant AA: X
variant codon: A
cDNA pos: 419
CDS pos: 270
translation impact: frameshift
protein sequence: NP_056321.2
AA pos: 90
hgvs_p: NP_056321.2:p.Arg91LysfsTer14

rs1060499568
GMAF = 0.0009984
TOPMED_MAF = 0.00098751274209989

417860
clinvar_significance = Pathogenic
clinvar_disease = Methylmalonic acidemia with homocystinuria
1421
clinvar_significance = Conflicting_interpretations_of_pathogenicity
clinvar_disease = Methylmalonic acidemia with homocystinuria
clinvar_disease = Disorders of Intracellular Cobalamin Metabolism
clinvar_disease = METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA

EVS
EVS MAF (European American/African American/All) = 0.001732,0.000000,0.001156

ExAC Non-Finnish, (113 / 66462), 0.17%
gnomAD Southern European, (62 / 11514), 0.538%