KCNJ5 : c.844C>G

KCNJ5 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.844C>Gp.Q282E (Gln > Glu)substitutionmissense chr11:128782012 (forward strand)0.98647932

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.98647932 (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
ExAC0.97905546
64929 / 66318		0.99764752
10178 / 10202		1.00000000
8628 / 8628		0.99860046
16411 / 16434		0.99748439
11499 / 11528		0.97611128
6456 / 6614		0.99116998
898 / 906		0.98647932
118999 / 120630
ESP 0.98196
8439 / 8594		 0.99705
4389 / 4402		 0.98707
12828 / 12996
1KG
 0.98515
796 / 808		 0.99773
1319 / 1322		 1.00000
1008 / 1008		 0.99796
976 / 978		 0.99424
690 / 694		 0.97980
194 / 198		 0.99501
4983 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.97802
178 / 182
British
0.97541
119 / 122
African-American
1.00000
186 / 186
Chinese Dai
1.00000
172 / 172
Bengali
0.99468
187 / 188
Colombian
0.99533
213 / 214
Iberian
1.00000
192 / 192
African-Caribbean
1.00000
206 / 206
Han, Beijing
0.99029
204 / 206
Gujarati Indian
0.99219
127 / 128
Mexican, LA
0.99533
213 / 214
Toscani
1.00000
198 / 198
Esan, Nigeria
1.00000
208 / 208
Japanese
1.00000
204 / 204
Indian Telugu
1.00000
170 / 170
Peruvian
0.96970
192 / 198
Utah Europeans
1.00000
226 / 226
Gambian
1.00000
198 / 198
Kinh, Vietnam
1.00000
192 / 192
Punjabi, Lahore
0.99038
206 / 208
Puerto Rican
1.00000
198 / 198
Luhya, Kenya
1.00000
210 / 210
Southern Han
1.00000
204 / 204
Tamil
1.00000
170 / 170
Mende
1.00000
216 / 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 ENST00000529694 LRG_333t1NM_000890.3
Protein ENSP00000433295 LRG_333p1P48544

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 conservative benign benign
LRT MutationTaster MutationAssessor FATHMM
neutral polymorphism (auto) neutral 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.