Classification
Category 4
curation
CMH MAF
72 /
14969 samples
(0.481%)
72 het.,
0 hom.
(100%)
72 /
29938 total alleles
(0.24%)
Genes
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
gene: ALPL
synonym(s): AP-TNAP, APTNAP, HOPS, TNAP, TNSALP, ALPL, ENSG00000162551
ENST00000374840.3
[CDS]
Reportable
hgvs_c: ENST00000374840.3:c.1381G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 1631
CDS pos: 1381
translation impact: non_synonymous
protein sequence:
ENSP00000363973.3
AA pos: 461
hgvs_p: ENSP00000363973.3:p.Val461Ile
blosum: 3
SIFT: tolerated (0.94)
PolyPhen2: benign (0.055)
ENST00000539907.1
[CDS]
hgvs_c: ENST00000539907.1:c.1150G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 1357
CDS pos: 1150
translation impact: non_synonymous
protein sequence:
ENSP00000437674.1
AA pos: 384
hgvs_p: ENSP00000437674.1:p.Val384Ile
blosum: 3
SIFT: tolerated (0.86)
PolyPhen2: benign (0.056)
ENST00000540617.1
[CDS]
hgvs_c: ENST00000540617.1:c.1216G>A
reference AA: V
variant AA: I
reference codon: Gtc
variant codon: Atc
cDNA pos: 1473
CDS pos: 1216
translation impact: non_synonymous
protein sequence:
ENSP00000442672.1
AA pos: 406
hgvs_p: ENSP00000442672.1:p.Val406Ile
blosum: 3
SIFT: tolerated (0.82)
PolyPhen2: benign (0.055)
dbSNP
rs34810399
GMAF = 0.007188
TOPMED_MAF = 0.00827440112130479
ClinVar
295552
clinvar_significance = Benign_Likely_benign
clinvar_disease = Hypophosphatasia
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.000233,0.022480,0.007774
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
246 / 9486 |
2.59% |
| America/Latino |
10 / 11434 |
0.0875% |
| East Asian |
0 / 8458 |
0% |
| Finnish |
0 / 6592 |
0% |
| Non-Finnish |
6 / 63938 |
0.00938% |
| Other |
4 / 866 |
0.462% |
| South Asian |
4 / 16318 |
0.0245% |
| Total MAF |
270 / 117092 |
0.231% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
688 / 24412 |
2.82% |
| America/Latino |
39 / 35294 |
0.111% |
| Ashkenazi Jewish |
0 / 10278 |
0% |
| East Asian |
0 / 19516 |
0% |
| Finnish |
1 / 23076 |
0.00433% |
| Non-Finnish |
12 / 125864 |
0.00953% |
| Other |
10 / 7140 |
0.14% |
| South Asian |
9 / 30490 |
0.0295% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 114 |
0% |
| Other East Asian |
0 / 14024 |
0% |
| Bulgarian |
0 / 2518 |
0% |
| Estonian |
0 / 4792 |
0% |
| North-Western European |
3 / 48944 |
0.00613% |
| Southern European |
2 / 11402 |
0.0175% |
| Swedish |
1 / 26070 |
0.00384% |
| Other non-Finnish European |
6 / 32138 |
0.0187% |
| Total MAF |
759 / 276070 |
0.275% |
curated_classification = 4
Export Variant