11:6415539-6415539 C > T

Classification

Category 3 curation
CMH MAF 2 / 14969 samples (0.0134%)
2 het., 0 hom. (100%)
2 / 29938 total alleles (0.00668%)

gene: SMPD1 synonym(s): ASM, ASMASE, NPD, SMPD1, ENSG00000166311

OMIM
OMIM:607608: SMPD1 (Autosomal recessive inheritance)
OMIM:257200: Niemann-Pick disease, type A
OMIM:607616: Niemann-Pick disease, type B

NM_000543.4 [CDS]
hgvs_c: NM_000543.4:c.1598C>T
reference AA: P
variant AA: L
reference codon: cCg
variant codon: cTg
cDNA pos: 1783
CDS pos: 1598
translation impact: non_synonymous
protein sequence: NP_000534.3
AA pos: 533
hgvs_p: NP_000534.3:p.Pro533Leu
blosum: -3
SIFT: deleterious (0.0)
PolyPhen2: probably_damaging (0.983)

rs199915216
GMAF = 0.0003994
TOPMED_MAF = 0.00046190112130479

198092
clinvar_significance = Conflicting_interpretations_of_pathogenicity

EVS
EVS MAF (European American/African American/All) = 0.000116,0.000000,0.000077

ExAC East Asian, (62 / 8654), 0.716%
gnomAD Other East Asian, (124 / 14424), 0.86% curated_classification = 3