ACE : c.2306-11A>C

ACE gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2306-11A>Csubstitutionsplice site chr17:61565998 (forward strand)0.49957918

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.49957918 (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
ExAC0.45899868
30584 / 66632		0.41604010
4316 / 10374		0.65909091
5684 / 8624		0.59109091
9753 / 16500		0.59572442
6883 / 11554		0.44000000
2904 / 6600		0.46365639
421 / 908		0.49957918
60545 / 121192
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.42822
346 / 808		 0.41301
546 / 1322		 0.67460
680 / 1008		 0.61861
605 / 978		 0.56916
395 / 694		 0.41414
82 / 198		 0.52995
2654 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.50549
92 / 182
British
0.45082
55 / 122
African-American
0.65591
122 / 186
Chinese Dai
0.63372
109 / 172
Bengali
0.53191
100 / 188
Colombian
0.42056
90 / 214
Iberian
0.41667
80 / 192
African-Caribbean
0.75243
155 / 206
Han, Beijing
0.61165
126 / 206
Gujarati Indian
0.61719
79 / 128
Mexican, LA
0.33645
72 / 214
Toscani
0.39394
78 / 198
Esan, Nigeria
0.58654
122 / 208
Japanese
0.62745
128 / 204
Indian Telugu
0.69412
118 / 170
Peruvian
0.46465
92 / 198
Utah Europeans
0.39823
90 / 226
Gambian
0.67172
133 / 198
Kinh, Vietnam
0.63021
121 / 192
Punjabi, Lahore
0.47115
98 / 208
Puerto Rican
0.44444
88 / 198
Luhya, Kenya
0.70476
148 / 210
Southern Han
0.59314
121 / 204
Tamil
0.39412
67 / 170
Mende
0.40741
88 / 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 ENST00000290866 NM_000789.3
Protein ENSP00000290866 P12821



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.