EGFR : c.559+10G>A

EGFR gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.559+10G>Asubstitutionsplice site chr7:55214443 (forward strand)0.07684593

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.07684593 (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
ExAC0.08932390
5932 / 66410		0.01995717
205 / 10272		0.06591752
569 / 8632		0.10381847
1702 / 16394		0.03761755
432 / 11484		0.05477571
359 / 6554		0.08017817
72 / 898		0.07684593
9271 / 120644
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.09777
79 / 808		 0.00908
12 / 1322		 0.04663
47 / 1008		 0.09918
97 / 978		 0.03890
27 / 694		 0.07576
15 / 198		 0.05531
277 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.06593
12 / 182
British
0.04098
5 / 122
African-American
0.06989
13 / 186
Chinese Dai
0.07558
13 / 172
Bengali
0.04255
8 / 188
Colombian
0.12617
27 / 214
Iberian
0.02083
4 / 192
African-Caribbean
0.04369
9 / 206
Han, Beijing
0.12621
26 / 206
Gujarati Indian
0.01562
2 / 128
Mexican, LA
0.09813
21 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.02885
6 / 208
Japanese
0.09314
19 / 204
Indian Telugu
0.01765
3 / 170
Peruvian
0.09596
19 / 198
Utah Europeans
0.00885
2 / 226
Gambian
0.04040
8 / 198
Kinh, Vietnam
0.08854
17 / 192
Punjabi, Lahore
0.06731
14 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.05238
11 / 210
Southern Han
0.10784
22 / 204
Tamil
0.00000
0 / 170
Mende
0.00463
1 / 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 ENST00000275493 NM_005228.3
Protein ENSP00000275493 P00533



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.