EYA4 : c.580+11_580+13delTCT

EYA4 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.580+11_580+13delTCTdeletionsplice site chr6:0-133783626 (forward strand)0.02211797

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.02211797 (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
ExAC0.00061575
41 / 66586		0.10305710
1072 / 10402		0.09119497
783 / 8586		0.04337291
716 / 16508		0.00443710
51 / 11494		0.00000000
0 / 6594		0.01651982
15 / 908		0.02211797
2678 / 121078
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.00000
0 / 1006		 0.13313
176 / 1322		 0.07242
73 / 1008		 0.03885
38 / 978		 0.00576
4 / 694		 0.00000
0 / 198		 0.05811
291 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.10656
13 / 122
African-American
0.08065
15 / 186
Chinese Dai
0.04070
7 / 172
Bengali
0.00532
1 / 188
Colombian
0.00000
0 / 214
Iberian
0.11979
23 / 192
African-Caribbean
0.11650
24 / 206
Han, Beijing
0.04854
10 / 206
Gujarati Indian
0.00000
0 / 128
Mexican, LA
0.00000
0 / 214
Toscani
0.11616
23 / 198
Esan, Nigeria
0.03365
7 / 208
Japanese
0.03922
8 / 204
Indian Telugu
0.00588
1 / 170
Peruvian
0.00000
0 / 198
Utah Europeans
0.14602
33 / 226
Gambian
0.05051
10 / 198
Kinh, Vietnam
0.04167
8 / 192
Punjabi, Lahore
0.00962
2 / 208
Puerto Rican
0.08081
16 / 198
Luhya, Kenya
0.08095
17 / 210
Southern Han
0.02451
5 / 204
Tamil
0.17647
30 / 170
Mende
0.17593
38 / 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



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.