AGL : c.2812+11G>A

AGL gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2812+11G>Asubstitutionsplice site chr1:100353675 (forward strand)0.68976078

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.68976078 (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
ExAC0.68925367
45936 / 66646		0.58852364
6123 / 10404		0.69226315
5977 / 8634		0.73200872
12084 / 16508		0.72452368
8290 / 11442		0.68575758
4526 / 6600		0.68612335
623 / 908		0.68976078
83559 / 121142
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.67822
548 / 808		 0.58548
774 / 1322		 0.70734
713 / 1008		 0.75665
740 / 978		 0.70749
491 / 694		 0.73232
145 / 198		 0.68111
3411 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.70879
129 / 182
British
0.56557
69 / 122
African-American
0.70430
131 / 186
Chinese Dai
0.77907
134 / 172
Bengali
0.70213
132 / 188
Colombian
0.64486
138 / 214
Iberian
0.58854
113 / 192
African-Caribbean
0.74757
154 / 206
Han, Beijing
0.73786
152 / 206
Gujarati Indian
0.79688
102 / 128
Mexican, LA
0.66355
142 / 214
Toscani
0.59596
118 / 198
Esan, Nigeria
0.73077
152 / 208
Japanese
0.78431
160 / 204
Indian Telugu
0.69412
118 / 170
Peruvian
0.70202
139 / 198
Utah Europeans
0.50885
115 / 226
Gambian
0.69697
138 / 198
Kinh, Vietnam
0.72396
139 / 192
Punjabi, Lahore
0.66827
139 / 208
Puerto Rican
0.61111
121 / 198
Luhya, Kenya
0.65714
138 / 210
Southern Han
0.75980
155 / 204
Tamil
0.57059
97 / 170
Mende
0.65278
141 / 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.