1:21904140-21904140 G > -

Classification

Category 5

curation

CMH MAF

22 / 14969 samples (0.147%)
22 het., 0 hom. (100%)
22 / 29938 total alleles (0.0735%)

Genes

Consequences
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.1574del
reference AA: *
variant AA: X
reference codon: tGa
variant codon: ta
cDNA pos: 1824
CDS pos: 1574
translation impact: premature_stop
protein sequence: ENSP00000363973.3
AA pos: 525
hgvs_p: ENSP00000363973.3:p.Ter525=
blosum: -4

ENST00000539907.1 [CDS]
hgvs_c: ENST00000539907.1:c.1343del
reference AA: *
variant AA: X
reference codon: tGa
variant codon: ta
cDNA pos: 1550
CDS pos: 1343
translation impact: premature_stop
protein sequence: ENSP00000437674.1
AA pos: 448
hgvs_p: ENSP00000437674.1:p.Ter448=
blosum: -4

ENST00000540617.1 [CDS]
hgvs_c: ENST00000540617.1:c.1409del
reference AA: *
variant AA: X
reference codon: tGa
variant codon: ta
cDNA pos: 1666
CDS pos: 1409
translation impact: premature_stop
protein sequence: ENSP00000442672.1
AA pos: 470
hgvs_p: ENSP00000442672.1:p.Ter470=
blosum: -4

dbSNP

rs764994176
TOPMED_MAF = 0.00037429918450560

ClinVar

555631
clinvar_significance = Uncertain_significance
clinvar_disease = Infantile hypophosphatasia

Exome Variant Server

EVS
EVS MAF (European American/African American/All) = 0.000618,0.000241,0.000490

ExAC

ExAC
Ethnicity Count / Number MAF
African 1 / 6046 0.0165%
America/Latino 9 / 8988 0.1%
East Asian 0 / 6378 0%
Finnish 0 / 4244 0%
Non-Finnish 24 / 47192 0.0509%
Other 0 / 638 0%
South Asian 0 / 13630 0%
Total MAF 34 / 87116 0.039%

gnomAD

gnomAD
Source: Genome / Exome

Ethnicity Count / Number MAF
African 1 / 22476 0.00445%
America/Latino 18 / 34714 0.0519%
Ashkenazi Jewish 0 / 9996 0%
East Asian 0 / 18978 0%
Finnish 0 / 15188 0%
Non-Finnish 59 / 120848 0.0488%
Other 3 / 6866 0.0437%
South Asian 0 / 29688 0%
Korean 0 / 3690 0%
Japanese 0 / 70 0%
Other East Asian 0 / 13658 0%
Bulgarian 0 / 1822 0%
Estonian 0 / 4784 0%
North-Western European 27 / 48652 0.0555%
Southern European 10 / 10958 0.0913%
Swedish 4 / 24470 0.0163%
Other non-Finnish European 18 / 30162 0.0597%
Total MAF 81 / 258754 0.0313%

curated_classification = 5

Export Variant

Curation

Benign