AKAP9 : c.1389G>T

Variant Details

Variant (CDS)	Variant (protein)	Variant Type	Variant Effect	Genomic Location (GRCh37)	ExAC Frequency
c.1389G>T	p.M463I (Met > Ile)	substitution	missense	chr7:91630620 (forward strand)	0.38289772

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.38289772 (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
ExAC	0.40043401 26572 / 66358	0.51141199 5288 / 10340	0.17447252 1505 / 8626	0.39262315 6472 / 16484	0.30564726 3518 / 11510	0.38574455 2549 / 6608	0.40000000 360 / 900	0.38289772 46264 / 120826
ESP	0.40302 3466 / 8600	0.51363 2261 / 4402						0.44047 5727 / 13002
1KG	0.40347 326 / 808	0.50227 664 / 1322	0.16171 163 / 1008	0.40900 400 / 978	0.35735 248 / 694	0.31818 63 / 198		0.37220 1864 / 5008

View sub-population details for 1000 Genomes (1KG) data

Hide sub-population details for 1000 Genomes (1KG) data

0.36813 67 / 182 British	0.54098 66 / 122 African-American	0.17742 33 / 186 Chinese Dai	0.43605 75 / 172 Bengali	0.44149 83 / 188 Colombian
0.42523 91 / 214 Iberian	0.47917 92 / 192 African-Caribbean	0.16505 34 / 206 Han, Beijing	0.41262 85 / 206 Gujarati Indian	0.34375 44 / 128 Mexican, LA
0.40187 86 / 214 Toscani	0.44949 89 / 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	0.52655 119 / 226 Gambian	0.13131 26 / 198 Kinh, Vietnam	0.34896 67 / 192 Punjabi, Lahore	0.39423 82 / 208 Puerto Rican
	0.45455 90 / 198 Luhya, Kenya	0.15238 32 / 210 Southern Han	0.41667 85 / 204 Tamil
	0.58235 99 / 170 Mende
	0.50463 109 / 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_331t1	NM_005751.4
Protein	ENSP00000348573	LRG_331p1

Missense Variant Predictions
SIFT	Grantham	Polyphen-DIV	Polyphen-VAR	Summary 0% of algorithms have predicted that this variant will adversely affect protein function
tolerated	conservative	benign	benign
LRT	MutationTaster	MutationAssessor	FATHMM
neutral	polymorphism (auto)	neutral	tolerated

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.