Classification
Category 4
CMH MAF
39 /
8745 samples
(0.446%)
39 het.,
0 hom.
(100%)
39 /
17490 total alleles
(0.223%)
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 = 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 |
671 / 23562 |
2.85% |
| America/Latino |
38 / 34352 |
0.111% |
| Ashkenazi Jewish |
0 / 10074 |
0% |
| East Asian |
0 / 18758 |
0% |
| Finnish |
1 / 23888 |
0.00419% |
| Non-Finnish |
12 / 123542 |
0.00971% |
| Other |
13 / 6388 |
0.204% |
| South Asian |
8 / 30684 |
0.0261% |
| Total MAF |
743 / 271248 |
0.274% |
Export Variant