1:5935064-5935064 T > C

Classification

Category 4

CMH MAF

41 / 8745 samples (0.469%)
41 het., 0 hom. (100%)
41 / 17490 total alleles (0.234%)

Genes

Consequences
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

Curation

Likely Benign