KCNJ5 : c.938-10G>A

KCNJ5 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.938-10G>Asubstitutionsplice site chr11:128786294 (forward strand)0.73459813

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.73459813 (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
ExAC0.73378123
48930 / 66682		0.79040647
8206 / 10382		0.66716867
5759 / 8632		0.78330911
12934 / 16512		0.69927348
8085 / 11562		0.68386804
4519 / 6608		0.73068433
662 / 906		0.73459813
89095 / 121284
ESP 0.00000
0 / 8600		 0.00000
0 / 4400		 0.00000
0 / 13000
1KG
 0.76361
617 / 808		 0.78215
1034 / 1322		 0.65377
659 / 1008		 0.76892
752 / 978		 0.69452
482 / 694		 0.71212
141 / 198		 0.73582
3685 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.73626
134 / 182
British
0.76230
93 / 122
African-American
0.66129
123 / 186
Chinese Dai
0.73837
127 / 172
Bengali
0.72340
136 / 188
Colombian
0.76168
163 / 214
Iberian
0.81250
156 / 192
African-Caribbean
0.61650
127 / 206
Han, Beijing
0.75728
156 / 206
Gujarati Indian
0.66406
85 / 128
Mexican, LA
0.83645
179 / 214
Toscani
0.77273
153 / 198
Esan, Nigeria
0.66827
139 / 208
Japanese
0.78431
160 / 204
Indian Telugu
0.65294
111 / 170
Peruvian
0.71212
141 / 198
Utah Europeans
0.81416
184 / 226
Gambian
0.69697
138 / 198
Kinh, Vietnam
0.78125
150 / 192
Punjabi, Lahore
0.72115
150 / 208
Puerto Rican
0.74242
147 / 198
Luhya, Kenya
0.62857
132 / 210
Southern Han
0.77941
159 / 204
Tamil
0.77059
131 / 170
Mende
0.78704
170 / 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



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.