KCNJ5 : c.937+7C>T

KCNJ5 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.937+7C>Tsubstitutionsplice site chr11:128782112 (forward strand)0.03060322

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.03060322 (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
ExAC0.01103262
709 / 64264		0.17899712
1742 / 9732		0.08788457
737 / 8386		0.00599388
98 / 16350		0.02079312
237 / 11398		0.00774135
51 / 6588		0.02828054
25 / 884		0.03060322
3599 / 117602
ESP 0.00828
71 / 8574		 0.15803
695 / 4398		 0.05905
766 / 12972
1KG
 0.01114
9 / 808		 0.18911
250 / 1322		 0.08631
87 / 1008		 0.00613
6 / 978		 0.04323
30 / 694		 0.00000
0 / 198		 0.07628
382 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.00549
1 / 182
British
0.16393
20 / 122
African-American
0.09677
18 / 186
Chinese Dai
0.02326
4 / 172
Bengali
0.03723
7 / 188
Colombian
0.01869
4 / 214
Iberian
0.17708
34 / 192
African-Caribbean
0.09223
19 / 206
Han, Beijing
0.00000
0 / 206
Gujarati Indian
0.03125
4 / 128
Mexican, LA
0.01402
3 / 214
Toscani
0.17677
35 / 198
Esan, Nigeria
0.05769
12 / 208
Japanese
0.00000
0 / 204
Indian Telugu
0.05882
10 / 170
Peruvian
0.00505
1 / 198
Utah Europeans
0.20796
47 / 226
Gambian
0.10101
20 / 198
Kinh, Vietnam
0.01042
2 / 192
Punjabi, Lahore
0.04327
9 / 208
Puerto Rican
0.23737
47 / 198
Luhya, Kenya
0.08571
18 / 210
Southern Han
0.00000
0 / 204
Tamil
0.18824
32 / 170
Mende
0.16204
35 / 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.