Classification
Category 4
CMH MAF
41 /
8745 samples
(0.469%)
41 het.,
0 hom.
(100%)
41 /
17490 total alleles
(0.234%)
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
clinvar_submission_scv = SCV000281307.1
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 |
17 / 24004 |
0.0708% |
| America/Latino |
23 / 34402 |
0.0669% |
| Ashkenazi Jewish |
15 / 10148 |
0.148% |
| East Asian |
0 / 18856 |
0% |
| Finnish |
247 / 24396 |
1.01% |
| Non-Finnish |
483 / 126518 |
0.382% |
| Other |
5 / 6442 |
0.0776% |
| South Asian |
4 / 30782 |
0.013% |
| Total MAF |
794 / 275548 |
0.288% |
Export Variant