GAA : c.2065G>A

GAA gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.2065G>Ap.E689K (Glu > Lys)substitutionmissense chr17:78087041 (forward strand)0.08796957

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.08796957 (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
ExAC0.06747634
2139 / 31700		0.03017729
160 / 5302		0.31030490
1608 / 5182		0.08074415
842 / 10428		0.04564509
196 / 4294		0.12770013
201 / 1574		0.08415842
34 / 404		0.08796957
5180 / 58884
ESP 0.03479
299 / 8594		 0.01934
85 / 4396		 0.02956
384 / 12990
1KG
 0.03342
27 / 808		 0.00908
12 / 1322		 0.24008
242 / 1008		 0.07669
75 / 978		 0.03458
24 / 694		 0.05556
11 / 198		 0.07808
391 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.02198
4 / 182
British
0.00000
0 / 122
African-American
0.15591
29 / 186
Chinese Dai
0.11628
20 / 172
Bengali
0.02128
4 / 188
Colombian
0.04673
10 / 214
Iberian
0.00521
1 / 192
African-Caribbean
0.28155
58 / 206
Han, Beijing
0.03883
8 / 206
Gujarati Indian
0.02344
3 / 128
Mexican, LA
0.04206
9 / 214
Toscani
0.01010
2 / 198
Esan, Nigeria
0.28365
59 / 208
Japanese
0.06373
13 / 204
Indian Telugu
0.04118
7 / 170
Peruvian
0.02020
4 / 198
Utah Europeans
0.00442
1 / 226
Gambian
0.23737
47 / 198
Kinh, Vietnam
0.09375
18 / 192
Punjabi, Lahore
0.04808
10 / 208
Puerto Rican
0.02525
5 / 198
Luhya, Kenya
0.23333
49 / 210
Southern Han
0.07843
16 / 204
Tamil
0.00588
1 / 170
Mende
0.00926
2 / 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 ENST00000302262 LRG_673t1NM_000152.3
Protein ENSP00000305692 LRG_673p1P10253

Missense Variant Predictions
SIFT Grantham Polyphen-DIV Polyphen-VAR Summary
12.5% of algorithms have predicted that this variant will adversely affect protein function
tolerated moderately conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) low impact damaging


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.