AKAP9 : c.4003_4004insAAC

AKAP9 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.4003_4004insAACp.Lys1335_Leu1336insGlninsertioninframe chr7:91652178-91652179 (forward strand)0.39892294

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.39892294 (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
ExAC0.40101284
26369 / 65756		0.63242407
6538 / 10338		0.20183377
1695 / 8398		0.41136087
6771 / 16460		0.30950282
3511 / 11344		0.38465046
2531 / 6580		0.40715884
364 / 894		0.39892294
47779 / 119770
ESP 0.40308
3327 / 8254		 0.62617
2670 / 4264		 0.47907
5997 / 12518
1KG
 0.40347
326 / 808		 0.66566
880 / 1322		 0.18254
184 / 1008		 0.42740
418 / 978		 0.36888
256 / 694		 0.31818
63 / 198		 0.42472
2127 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.36813
67 / 182
British
0.65574
80 / 122
African-American
0.20430
38 / 186
Chinese Dai
0.45349
78 / 172
Bengali
0.44681
84 / 188
Colombian
0.42523
91 / 214
Iberian
0.63021
121 / 192
African-Caribbean
0.18932
39 / 206
Han, Beijing
0.42233
87 / 206
Gujarati Indian
0.35156
45 / 128
Mexican, LA
0.40187
86 / 214
Toscani
0.64646
128 / 198
Esan, Nigeria
0.20192
42 / 208
Japanese
0.45098
92 / 204
Indian Telugu
0.22941
39 / 170
Peruvian
0.41414
82 / 198
Utah Europeans
0.66372
150 / 226
Gambian
0.15152
30 / 198
Kinh, Vietnam
0.36979
71 / 192
Punjabi, Lahore
0.42308
88 / 208
Puerto Rican
0.60606
120 / 198
Luhya, Kenya
0.16667
35 / 210
Southern Han
0.44118
90 / 204
Tamil
0.70000
119 / 170
Mende
0.75000
162 / 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.