WNK4 : c.1801G>T

WNK4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1801G>Tp.A601S (Ala > Ser)substitutionmissense chr17:40939855 (forward strand)0.04049916

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.04049916 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.00277349
176 / 63458		0.23396347
2203 / 9416		0.04395218
375 / 8532		0.10649776
1757 / 16498		0.01449653
167 / 11520		0.00469270
31 / 6606		0.02934537
26 / 886		0.04049916
4735 / 116916
ESP 0.00118
10 / 8466		 0.20650
890 / 4310		 0.07044
900 / 12776
1KG
 0.00248
2 / 808		 0.25492
337 / 1322		 0.03869
39 / 1008		 0.12065
118 / 978		 0.02305
16 / 694		 0.01010
2 / 198		 0.10264
514 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.22131
27 / 122
African-American
0.04839
9 / 186
Chinese Dai
0.12791
22 / 172
Bengali
0.03191
6 / 188
Colombian
0.00467
1 / 214
Iberian
0.22396
43 / 192
African-Caribbean
0.03883
8 / 206
Han, Beijing
0.14078
29 / 206
Gujarati Indian
0.00000
0 / 128
Mexican, LA
0.00467
1 / 214
Toscani
0.21717
43 / 198
Esan, Nigeria
0.03365
7 / 208
Japanese
0.08824
18 / 204
Indian Telugu
0.02353
4 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.26991
61 / 226
Gambian
0.04040
8 / 198
Kinh, Vietnam
0.10938
21 / 192
Punjabi, Lahore
0.02885
6 / 208
Puerto Rican
0.25758
51 / 198
Luhya, Kenya
0.03333
7 / 210
Southern Han
0.13725
28 / 204
Tamil
0.36471
62 / 170
Mende
0.23148
50 / 216
Yoruba, Nigeria

The Exome Aggregation Consortium (ExAC) is a database of 60,706 unrelated individuals sequenced as part of various disease-specific and population genetic studies. There is partial overlap between ExAC and 1000 Genomes (1KG) (1,851 of the 2,504 samples in 1KG) and the Exome Sequencing Project (ESP) (3,936 of the 6,500 samples in ESP).


Other Variant & Gene Details

Canonical Sequences
Transcript ENST00000246914 NM_032387.4
Protein ENSP00000246914 Q96J92

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) neutral tolerated


References

1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

2. Pugh TJ, Kelly MA, Gowrisankar S, Hynes E, Seidman MA, Baxter SM, Bowser M, Harrison B, Aaron D, Mahanta LM, Lakdawala NK, McDermott G, White ET, Rehm HL, Lebo M, Funke BH. The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing. Genet Med. 2014 Aug;16(8):601-8.

3. Alfares AA, Kelly MA, McDermott G, Funke BH, Lebo MS, Baxter SB, Shen J, McLaughlin HM, Clark EH, Babb LJ, Cox SW, DePalma SR, Ho CY, Seidman JG, Seidman CE, Rehm HL. Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. Genet Med. 2015 Nov;17(11):880-8.