Classification
Category 3
non_synonymous
CMH MAF
31 /
9594 samples
(0.323%)
31 het.,
0 hom.
(100%)
31 /
19188 total alleles
(0.162%)
Genes
gene: PIGV
synonym(s): GPI-MT-II, HPMRS1, PIG-V, PIGV, ENSG00000060642
NM_001202554.1
[CDS]
hgvs_c: NM_001202554.1:c.349A>G
reference AA: I
variant AA: V
reference codon: Att
variant codon: Gtt
cDNA pos: 1038
CDS pos: 349
translation impact: non_synonymous
protein sequence:
NP_001189483.1
AA pos: 117
hgvs_p: NP_001189483.1:p.Ile117Val
blosum: 3
SIFT: tolerated (0.2)
PolyPhen2: benign (0.026)
NM_017837.3
[CDS]
Reportable
hgvs_c: NM_017837.3:c.349A>G
reference AA: I
variant AA: V
reference codon: Att
variant codon: Gtt
cDNA pos: 712
CDS pos: 349
translation impact: non_synonymous
protein sequence:
NP_060307.2
AA pos: 117
hgvs_p: NP_060307.2:p.Ile117Val
blosum: 3
SIFT: tolerated (0.2)
PolyPhen2: benign (0.026)
gene: TRNAN-GUU
synonym(s): TRNAN-GUU
TRNAN-GUU
[intron]
Reportable
dbSNP
rs142192097
GMAF = 0.0007987
TOPMED_MAF = 0.00118660805300713
ClinVar
clinvar_disease = Hyperphosphatasia with Intellectual Disability Syndrome
297116
clinvar_significance = Uncertain_significance
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
6 / 10406 |
0.0577% |
| America/Latino |
13 / 11576 |
0.112% |
| East Asian |
0 / 8654 |
0% |
| Finnish |
0 / 6612 |
0% |
| Non-Finnish |
169 / 66732 |
0.253% |
| Other |
1 / 908 |
0.11% |
| South Asian |
3 / 16512 |
0.0182% |
| Total MAF |
192 / 121400 |
0.158% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
7 / 24038 |
0.0291% |
| America/Latino |
28 / 34420 |
0.0813% |
| Ashkenazi Jewish |
31 / 10152 |
0.305% |
| East Asian |
0 / 18870 |
0% |
| Finnish |
2 / 25794 |
0.00775% |
| Non-Finnish |
285 / 126716 |
0.225% |
| Other |
12 / 6466 |
0.186% |
| South Asian |
4 / 30782 |
0.013% |
| Total MAF |
369 / 277238 |
0.133% |
Export Variant