EPHX2 : c.164A>G

EPHX2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.164A>Gp.K55R (Lys > Arg)substitutionmissense chr8:27358505 (forward strand)0.09007990

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.09007990 (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
ExAC0.09658630
6434 / 66614		0.21862348
2268 / 10374		0.00023154
2 / 8638		0.06197645
1021 / 16474		0.04874241
562 / 11530		0.08260212
546 / 6610		0.08810573
80 / 908		0.09007990
10913 / 121148
ESP 0.10407
895 / 8600		 0.21766
959 / 4406		 0.14255
1854 / 13006
1KG
 0.08787
71 / 808		 0.22012
291 / 1322		 0.00099
1 / 1008		 0.06851
67 / 978		 0.08357
58 / 694		 0.08081
16 / 198		 0.10064
504 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.09890
18 / 182
British
0.24590
30 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.08140
14 / 172
Bengali
0.09043
17 / 188
Colombian
0.07009
15 / 214
Iberian
0.22917
44 / 192
African-Caribbean
0.00485
1 / 206
Han, Beijing
0.08252
17 / 206
Gujarati Indian
0.04688
6 / 128
Mexican, LA
0.10280
22 / 214
Toscani
0.22727
45 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.04902
10 / 204
Indian Telugu
0.05882
10 / 170
Peruvian
0.08081
16 / 198
Utah Europeans
0.17699
40 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.07292
14 / 192
Punjabi, Lahore
0.12019
25 / 208
Puerto Rican
0.25253
50 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.05882
12 / 204
Tamil
0.21176
36 / 170
Mende
0.21296
46 / 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 ENST00000521400 NM_001979.4
Protein ENSP00000430269 P34913

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
0% of algorithms have predicted that this variant will adversely affect protein function
tolerated 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.