AGL : c.1160G>A

AGL gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.1160G>Ap.R387Q (Arg > Gln)substitutionmissense chr1:100340787 (forward strand)0.04756454

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.04756454 (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
ExAC0.00275304
183 / 66472		0.00371710
37 / 9954		0.17771853
1533 / 8626		0.11124605
1832 / 16468		0.17774692
2048 / 11522		0.01044189
69 / 6608		0.03547672
32 / 902		0.04756454
5734 / 120552
ESP 0.00198
17 / 8600		 0.00318
14 / 4406		 0.00238
31 / 13006
1KG
 0.00371
3 / 808		 0.00227
3 / 1322		 0.17659
178 / 1008		 0.13906
136 / 978		 0.11095
77 / 694		 0.01010
2 / 198		 0.07967
399 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00000
0 / 182
British
0.02459
3 / 122
African-American
0.16129
30 / 186
Chinese Dai
0.14535
25 / 172
Bengali
0.03191
6 / 188
Colombian
0.00000
0 / 214
Iberian
0.00000
0 / 192
African-Caribbean
0.16505
34 / 206
Han, Beijing
0.15534
32 / 206
Gujarati Indian
0.17188
22 / 128
Mexican, LA
0.00467
1 / 214
Toscani
0.00000
0 / 198
Esan, Nigeria
0.13942
29 / 208
Japanese
0.14706
30 / 204
Indian Telugu
0.21176
36 / 170
Peruvian
0.01010
2 / 198
Utah Europeans
0.00000
0 / 226
Gambian
0.23232
46 / 198
Kinh, Vietnam
0.07812
15 / 192
Punjabi, Lahore
0.06250
13 / 208
Puerto Rican
0.00000
0 / 198
Luhya, Kenya
0.18571
39 / 210
Southern Han
0.16667
34 / 204
Tamil
0.00000
0 / 170
Mende
0.00000
0 / 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 ENST00000361915 NM_000642.2
Protein ENSP00000355106 P35573

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral 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.