AGL : c.2001+8T>C

AGL gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2001+8T>Csubstitutionsplice site chr1:100346741 (forward strand)0.55170507

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.55170507 (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
ExAC0.53618490
35726 / 66630		0.43160831
4487 / 10396		0.66481481
5744 / 8640		0.59047388
9744 / 16502		0.63380894
7285 / 11494		0.51166667
3377 / 6600		0.53642384
486 / 906		0.55170507
66849 / 121168
ESP 0.53826
4629 / 8600		 0.43759
1928 / 4406		 0.50415
6557 / 13006
1KG
 0.52723
426 / 808		 0.42057
556 / 1322		 0.67956
685 / 1008		 0.60941
596 / 978		 0.60951
423 / 694		 0.56061
111 / 198		 0.55851
2797 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.56044
102 / 182
British
0.42623
52 / 122
African-American
0.66129
123 / 186
Chinese Dai
0.59302
102 / 172
Bengali
0.60638
114 / 188
Colombian
0.48131
103 / 214
Iberian
0.45833
88 / 192
African-Caribbean
0.73301
151 / 206
Han, Beijing
0.61165
126 / 206
Gujarati Indian
0.67188
86 / 128
Mexican, LA
0.48131
103 / 214
Toscani
0.40404
80 / 198
Esan, Nigeria
0.69231
144 / 208
Japanese
0.63235
129 / 204
Indian Telugu
0.61765
105 / 170
Peruvian
0.59596
118 / 198
Utah Europeans
0.38496
87 / 226
Gambian
0.66667
132 / 198
Kinh, Vietnam
0.57812
111 / 192
Punjabi, Lahore
0.56731
118 / 208
Puerto Rican
0.46970
93 / 198
Luhya, Kenya
0.64286
135 / 210
Southern Han
0.62745
128 / 204
Tamil
0.41765
71 / 170
Mende
0.39352
85 / 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



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.