Classification
Category 3
non_synonymous
CMH MAF
35 /
14969 samples
(0.234%)
35 het.,
0 hom.
(100%)
35 /
29938 total alleles
(0.117%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: PPT1
synonym(s): CLN1, INCL, PPT, PPT1, ENSG00000131238
NM_000310.3
[CDS]
Reportable
hgvs_c: NM_000310.3:c.904A>G
reference AA: I
variant AA: V
reference codon: Ata
variant codon: Gta
cDNA pos: 1136
CDS pos: 904
translation impact: non_synonymous
protein sequence:
NP_000301.1
AA pos: 302
hgvs_p: NP_000301.1:p.Ile302Val
blosum: 3
SIFT: tolerated (0.32)
PolyPhen2: benign (0.016)
NM_001142604.1
[CDS]
hgvs_c: NM_001142604.1:c.595A>G
reference AA: I
variant AA: V
reference codon: Ata
variant codon: Gta
cDNA pos: 827
CDS pos: 595
translation impact: non_synonymous
protein sequence:
NP_001136076.1
AA pos: 199
hgvs_p: NP_001136076.1:p.Ile199Val
blosum: 3
SIFT: tolerated (0.3)
PolyPhen2: benign (0.005)
dbSNP
rs146902902
GMAF = 0.0003994
TOPMED_MAF = 0.00081230886850152
ClinVar
199009
clinvar_significance = Uncertain_significance
clinvar_disease = Ceroid lipofuscinosis neuronal 1
clinvar_disease = History of neurodevelopmental disorder
clinvar_disease = Neuronal Ceroid-Lipofuscinosis
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000698,0.000454,0.000615
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
5 / 10406 |
0.048% |
| America/Latino |
19 / 11578 |
0.164% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
9 / 6612 |
0.136% |
| Non-Finnish |
115 / 66730 |
0.172% |
| Other |
0 / 908 |
0% |
| South Asian |
11 / 16512 |
0.0666% |
| Total MAF |
159 / 121400 |
0.131% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
9 / 24968 |
0.036% |
| America/Latino |
34 / 35438 |
0.0959% |
| Ashkenazi Jewish |
0 / 10370 |
0% |
| East Asian |
0 / 19954 |
0% |
| Finnish |
24 / 25110 |
0.0956% |
| Non-Finnish |
224 / 129132 |
0.173% |
| Other |
9 / 7222 |
0.125% |
| South Asian |
25 / 30616 |
0.0817% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 152 |
0% |
| Other East Asian |
0 / 14424 |
0% |
| Bulgarian |
8 / 2668 |
0.3% |
| Estonian |
11 / 4830 |
0.228% |
| North-Western European |
76 / 50780 |
0.15% |
| Southern European |
8 / 11608 |
0.0689% |
| Swedish |
73 / 26134 |
0.279% |
| Other non-Finnish European |
48 / 33112 |
0.145% |
| Total MAF |
325 / 282810 |
0.115% |
Export Variant