RYR2 : c.849-8T>C

RYR2 gene summary

Variant Details

Variant (CDS)Variant (protein)Variant Type Variant EffectGenomic Location (GRCh37)ExAC Frequency
c.849-8T>Csubstitutionsplice site chr1:237586384 (forward strand)0.14033323

Effect in Cardiac Disease

As this variant is present at a population frequency of 0.14033323 (ExAC mean allelic frequency), it is highly unlikely to be pathogenic.

DCM

LMM:   Detected in 0 / 121 DCM patients.

For more information on the clinical significance of this variant, please see the ClinVar entry.

Detection in Population Databases



Database European African East Asian South Asian American Finnish Other Total
ExAC0.10156062
6755 / 66512		0.06778277
664 / 9796		0.27037381
2329 / 8614		0.16316372
2655 / 16272		0.32181127
3724 / 11572		0.09419413
623 / 6614		0.14365256
129 / 898		0.14033323
16879 / 120278
ESP 0.09847
813 / 8256		 0.06514
250 / 3838		 0.08790
1063 / 12094
1KG
 0.10396
84 / 808		 0.06354
84 / 1322		 0.31349
316 / 1008		 0.17382
170 / 978		 0.26657
185 / 694		 0.06566
13 / 198		 0.17013
852 / 5008
View sub-population details for 1000 Genomes (1KG) data
Hide sub-population details for 1000 Genomes (1KG) data

0.08242
15 / 182
British
0.08197
10 / 122
African-American
0.31720
59 / 186
Chinese Dai
0.19186
33 / 172
Bengali
0.21277
40 / 188
Colombian
0.10280
22 / 214
Iberian
0.07292
14 / 192
African-Caribbean
0.32039
66 / 206
Han, Beijing
0.17961
37 / 206
Gujarati Indian
0.32812
42 / 128
Mexican, LA
0.11215
24 / 214
Toscani
0.06061
12 / 198
Esan, Nigeria
0.20192
42 / 208
Japanese
0.19608
40 / 204
Indian Telugu
0.49412
84 / 170
Peruvian
0.11616
23 / 198
Utah Europeans
0.03540
8 / 226
Gambian
0.39394
78 / 198
Kinh, Vietnam
0.15104
29 / 192
Punjabi, Lahore
0.09135
19 / 208
Puerto Rican
0.06566
13 / 198
Luhya, Kenya
0.33810
71 / 210
Southern Han
0.15196
31 / 204
Tamil
0.08235
14 / 170
Mende
0.06019
13 / 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 ENST00000366574 LRG_402t1NM_001035.2
Protein ENSP00000355533 LRG_402p1Q92736



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.