12:7355269-7355269 T > C

Classification

Category 5 curation
CMH MAF 320 / 14969 samples (2.14%)
311 het., 9 hom. (97.2%)
329 / 29938 total alleles (1.1%)

gene: PEX5 synonym(s): PBD2A, PBD2B, PTS1-BP, PTS1R, PXR1, PEX5, ENSG00000139197

OMIM
OMIM:600414: PEX5
OMIM:214110: Peroxisome biogenesis disorder 2A (Zellweger)
OMIM:202370: Peroxisome biogenesis disorder 2B
OMIM:616716: Rhizomelic chondrodysplasia punctata, type 5

NM_001131025.1 [CDS]
hgvs_c: NM_001131025.1:c.815T>C
reference AA: M
variant AA: T
reference codon: aTg
variant codon: aCg
cDNA pos: 1362
CDS pos: 815
translation impact: non_synonymous
protein sequence: NP_001124497.1
AA pos: 272
hgvs_p: NP_001124497.1:p.Met272Thr
blosum: -1
SIFT: tolerated (0.72)
PolyPhen2: benign (0.0)

rs76708142
GMAF = 0.01777
TOPMED_MAF = 0.02295170744138634

235376
clinvar_significance = Benign_Likely_benign
clinvar_disease = Neonatal adrenoleucodystrophy
clinvar_disease = Peroxisome biogenesis disorder 1A (Zellweger)

EVS
EVS MAF (European American/African American/All) = 0.004419,0.053109,0.020913

ExAC African, (608 / 10402), 5.85%
gnomAD African, (1528 / 24956), 6.12% curated_classification = 5