AKAP9 : c.6945+8C>T

AKAP9 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.6945+8C>Tsubstitutionsplice site chr7:91707197 (forward strand)0.40764656

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.40764656 (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
ExAC0.42905477
24348 / 56748		0.49479991
4377 / 8846		0.21179914
1375 / 6492		0.40546937
6168 / 15212		0.33971837
3281 / 9658		0.40159661
2465 / 6138		0.42214112
347 / 822		0.40764656
42361 / 103916
ESP 0.40044
3443 / 8598		 0.47884
2105 / 4396		 0.42697
5548 / 12994
1KG
 0.40223
325 / 808		 0.46596
616 / 1322		 0.16171
163 / 1008		 0.41002
401 / 978		 0.35591
247 / 694		 0.31818
63 / 198		 0.36242
1815 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.36813
67 / 182
British
0.50000
61 / 122
African-American
0.17742
33 / 186
Chinese Dai
0.43605
75 / 172
Bengali
0.44149
83 / 188
Colombian
0.42056
90 / 214
Iberian
0.45833
88 / 192
African-Caribbean
0.16505
34 / 206
Han, Beijing
0.41748
86 / 206
Gujarati Indian
0.34375
44 / 128
Mexican, LA
0.40187
86 / 214
Toscani
0.44444
88 / 198
Esan, Nigeria
0.18269
38 / 208
Japanese
0.43137
88 / 204
Indian Telugu
0.22941
39 / 170
Peruvian
0.41414
82 / 198
Utah Europeans
0.44248
100 / 226
Gambian
0.13131
26 / 198
Kinh, Vietnam
0.34896
67 / 192
Punjabi, Lahore
0.38942
81 / 208
Puerto Rican
0.45455
90 / 198
Luhya, Kenya
0.15238
32 / 210
Southern Han
0.41667
85 / 204
Tamil
0.50000
85 / 170
Mende
0.48148
104 / 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 ENST00000356239 LRG_331t1NM_005751.4
Protein ENSP00000348573 LRG_331p1



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.