EPHX2 : c.307C>T

EPHX2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.307C>Tp.R103C (Arg > Cys)substitutionmissense chr8:27361241 (forward strand)0.01424348

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.01424348 (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
ExAC0.00394284
261 / 66196		0.10048780
1030 / 10250		0.00000000
0 / 8530		0.01471661
242 / 16444		0.01461124
168 / 11498		0.00015179
1 / 6588		0.01444444
13 / 900		0.01424348
1715 / 120406
ESP 0.00395
34 / 8600		 0.09873
435 / 4406		 0.03606
469 / 13006
1KG
 0.00371
3 / 808		 0.09985
132 / 1322		 0.00000
0 / 1008		 0.00511
5 / 978		 0.01873
13 / 694		 0.00000
0 / 198		 0.03055
153 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.08197
10 / 122
African-American
0.00000
0 / 186
Chinese Dai
0.00000
0 / 172
Bengali
0.01064
2 / 188
Colombian
0.00467
1 / 214
Iberian
0.07292
14 / 192
African-Caribbean
0.00000
0 / 206
Han, Beijing
0.01456
3 / 206
Gujarati Indian
0.00781
1 / 128
Mexican, LA
0.00935
2 / 214
Toscani
0.10101
20 / 198
Esan, Nigeria
0.00000
0 / 208
Japanese
0.00980
2 / 204
Indian Telugu
0.00000
0 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.11947
27 / 226
Gambian
0.00000
0 / 198
Kinh, Vietnam
0.00000
0 / 192
Punjabi, Lahore
0.04808
10 / 208
Puerto Rican
0.13636
27 / 198
Luhya, Kenya
0.00000
0 / 210
Southern Han
0.00000
0 / 204
Tamil
0.09412
16 / 170
Mende
0.08333
18 / 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
37.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated radical probably damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism low impact 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.