Classification
Category 4
curation
CMH MAF
82 /
14969 samples
(0.548%)
82 het.,
0 hom.
(100%)
82 /
29938 total alleles
(0.274%)
Genes
gene: NPHP4
synonym(s): POC10, SLSN4, NPHP4, ENSG00000131697
NM_015102.3
[CDS]
Reportable
hgvs_c: NM_015102.3:c.2914A>G
reference AA: S
variant AA: G
reference codon: Agc
variant codon: Ggc
cDNA pos: 3182
CDS pos: 2914
translation impact: non_synonymous
protein sequence:
NP_055917.1
AA pos: 972
hgvs_p: NP_055917.1:p.Ser972Gly
blosum: 0
SIFT: tolerated (0.08)
PolyPhen2: benign (0.015)
dbSNP
rs187947581
GMAF = 0.002596
TOPMED_MAF = 0.00258027522935779
ClinVar
195610
clinvar_significance = Benign_Likely_benign
Exome Variant Server
EVS
EVS MAF (European American/African American/All) = 0.003623,0.001141,0.002783
ExAC
ExAC
| Ethnicity |
Count / Number |
MAF |
| African |
9 / 9730 |
0.0925% |
| America/Latino |
7 / 11480 |
0.061% |
| East Asian |
0 / 8586 |
0% |
| Finnish |
71 / 6592 |
1.08% |
| Non-Finnish |
241 / 66096 |
0.365% |
| Other |
0 / 890 |
0% |
| South Asian |
2 / 16442 |
0.0122% |
| Total MAF |
330 / 119816 |
0.275% |
gnomAD
gnomAD
Source: Genome / Exome
| Ethnicity |
Count / Number |
MAF |
| African |
18 / 24224 |
0.0743% |
| America/Latino |
23 / 35344 |
0.0651% |
| Ashkenazi Jewish |
16 / 10330 |
0.155% |
| East Asian |
0 / 19524 |
0% |
| Finnish |
233 / 23616 |
0.987% |
| Non-Finnish |
498 / 128130 |
0.389% |
| Other |
11 / 7122 |
0.154% |
| South Asian |
3 / 30592 |
0.00981% |
| Korean |
0 / 3818 |
0% |
| Japanese |
0 / 132 |
0% |
| Other East Asian |
0 / 14020 |
0% |
| Bulgarian |
6 / 2664 |
0.225% |
| Estonian |
7 / 4816 |
0.145% |
| North-Western European |
237 / 50504 |
0.469% |
| Southern European |
16 / 11492 |
0.139% |
| Swedish |
117 / 25896 |
0.452% |
| Other non-Finnish European |
115 / 32758 |
0.351% |
| Total MAF |
802 / 278882 |
0.288% |
curated_classification = 4
Export Variant