EYA4 : c.829G>A

EYA4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.829G>Ap.G277S (Gly > Ser)substitutionmissense chr6:133789728 (forward strand)0.34169364

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.34169364 (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
ExAC0.31971962
21301 / 66624		0.53075149
5523 / 10406		0.35613262
3072 / 8626		0.38328687
6325 / 16502		0.28648932
3274 / 11428		0.23521383
1551 / 6594		0.36233480
329 / 908		0.34169364
41375 / 121088
ESP 0.31279
2690 / 8600		 0.51997
2291 / 4406		 0.38298
4981 / 13006
1KG
 0.32054
259 / 808		 0.56884
752 / 1322		 0.34425
347 / 1008		 0.41002
401 / 978		 0.34294
238 / 694		 0.27273
54 / 198		 0.40954
2051 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.29670
54 / 182
British
0.51639
63 / 122
African-American
0.27957
52 / 186
Chinese Dai
0.40116
69 / 172
Bengali
0.31383
59 / 188
Colombian
0.34579
74 / 214
Iberian
0.55208
106 / 192
African-Caribbean
0.42718
88 / 206
Han, Beijing
0.46117
95 / 206
Gujarati Indian
0.33594
43 / 128
Mexican, LA
0.34112
73 / 214
Toscani
0.63636
126 / 198
Esan, Nigeria
0.36538
76 / 208
Japanese
0.37745
77 / 204
Indian Telugu
0.30000
51 / 170
Peruvian
0.29293
58 / 198
Utah Europeans
0.56195
127 / 226
Gambian
0.29293
58 / 198
Kinh, Vietnam
0.42188
81 / 192
Punjabi, Lahore
0.40865
85 / 208
Puerto Rican
0.56061
111 / 198
Luhya, Kenya
0.34762
73 / 210
Southern Han
0.38725
79 / 204
Tamil
0.58235
99 / 170
Mende
0.55556
120 / 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 ENST00000367895 LRG_418t1NM_004100.4
Protein ENSP00000356870 LRG_418p1O95677

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
50% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative probably damaging possibly damaging
LRT MutationTaster MutationAssessor FATHMM
deleterious polymorphism (auto) low impact damaging


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.